Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224495G>C , CM000679.2:g.7224495G>C	GRCh38
NC_000017.10:g.7127814G>C , CM000679.1:g.7127814G>C	GRCh37
NC_000017.9:g.7068538G>C	NCBI36
NG_007975.1:g.9662G>C
NG_008391.2:g.556C>G
NG_033038.1:g.15050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1621G>C MANE Select	ENSP00000349297.5:p.Glu541Gln
ENST00000322910.9:c.*1576G>C	ENSP00000325395.5:n.*1576G>C
ENST00000350303.9:c.1555G>C	ENSP00000344152.5:p.Glu519Gln
ENST00000356839.9:c.1621G>C	ENSP00000349297.5:p.Glu541Gln
ENST00000542255.6:c.479G>C
ENST00000543245.6:c.1690G>C	ENSP00000438689.2:p.Glu564Gln
ENST00000578319.5:n.202G>C
ENST00000578711.1:n.991G>C
ENST00000578809.5:n.193G>C
ENST00000579391.1:n.225G>C
ENST00000579425.5:n.737G>C
ENST00000579546.1:c.356G>C
ENST00000579894.5:n.408G>C
ENST00000582450.1:n.129G>C
ENST00000583074.5:n.242G>C
ENST00000583848.5:c.7G>C	ENSP00000466487.1:p.Glu3Gln
ENST00000583850.5:n.392G>C
ENST00000583858.5:c.552G>C
ENST00000585203.6:n.812G>C
NM_000018.3:c.1621G>C	NP_000009.1:p.Glu541Gln
NM_001033859.2:c.1555G>C	NP_001029031.1:p.Glu519Gln
NM_001270447.1:c.1690G>C	NP_001257376.1:p.Glu564Gln
NM_001270448.1:c.1393G>C	NP_001257377.1:p.Glu465Gln
XM_006721516.2:c.1621G>C	XP_006721579.2:p.Glu541Gln
XM_011523829.1:c.1519G>C	XP_011522131.1:p.Glu507Gln
XM_011523830.1:c.1519G>C	XP_011522132.1:p.Glu507Gln
XR_934021.1:n.1724G>C
XR_934022.1:n.1630G>C
XR_934023.1:n.1630G>C
XM_006721516.3:c.1621G>C	XP_006721579.2:p.Glu541Gln
XM_011523829.2:c.1519G>C	XP_011522131.1:p.Glu507Gln
XM_011523830.2:c.1519G>C	XP_011522132.1:p.Glu507Gln
XM_024450741.1:c.1609G>C	XP_024306509.1:p.Glu537Gln
XR_934021.2:n.1676G>C
XR_934022.2:n.1582G>C
XR_934023.2:n.1582G>C
NM_000018.4:c.1621G>C MANE Select	NP_000009.1:p.Glu541Gln
NM_001033859.3:c.1555G>C	NP_001029031.1:p.Glu519Gln
NM_001270447.2:c.1690G>C	NP_001257376.1:p.Glu564Gln
NM_001270448.2:c.1393G>C	NP_001257377.1:p.Glu465Gln

Linked Data

Genomic Alleles

Transcript Alleles