Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224533A>C , CM000679.2:g.7224533A>C	GRCh38
NC_000017.10:g.7127852A>C , CM000679.1:g.7127852A>C	GRCh37
NC_000017.9:g.7068576A>C	NCBI36
NG_007975.1:g.9700A>C
NG_008391.2:g.518T>G
NG_033038.1:g.15012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1659A>C MANE Select	ENSP00000349297.5:p.Lys553Asn
ENST00000322910.9:c.*1614A>C	ENSP00000325395.5:n.*1614A>C
ENST00000350303.9:c.1593A>C	ENSP00000344152.5:p.Lys531Asn
ENST00000356839.9:c.1659A>C	ENSP00000349297.5:p.Lys553Asn
ENST00000542255.6:c.517A>C
ENST00000543245.6:c.1728A>C	ENSP00000438689.2:p.Lys576Asn
ENST00000578319.5:n.240A>C
ENST00000578711.1:n.1029A>C
ENST00000578809.5:n.231A>C
ENST00000579391.1:n.263A>C
ENST00000579425.5:n.775A>C
ENST00000579546.1:c.394A>C
ENST00000582450.1:n.167A>C
ENST00000583074.5:n.280A>C
ENST00000583848.5:c.45A>C	ENSP00000466487.1:p.Lys15Asn
ENST00000583850.5:n.430A>C
ENST00000583858.5:c.590A>C
ENST00000585203.6:n.850A>C
NM_000018.3:c.1659A>C	NP_000009.1:p.Lys553Asn
NM_001033859.2:c.1593A>C	NP_001029031.1:p.Lys531Asn
NM_001270447.1:c.1728A>C	NP_001257376.1:p.Lys576Asn
NM_001270448.1:c.1431A>C	NP_001257377.1:p.Lys477Asn
XM_006721516.2:c.1659A>C	XP_006721579.2:p.Lys553Asn
XM_011523829.1:c.1557A>C	XP_011522131.1:p.Lys519Asn
XM_011523830.1:c.1557A>C	XP_011522132.1:p.Lys519Asn
XR_934021.1:n.1762A>C
XR_934022.1:n.1668A>C
XR_934023.1:n.1668A>C
XM_006721516.3:c.1659A>C	XP_006721579.2:p.Lys553Asn
XM_011523829.2:c.1557A>C	XP_011522131.1:p.Lys519Asn
XM_011523830.2:c.1557A>C	XP_011522132.1:p.Lys519Asn
XM_024450741.1:c.1647A>C	XP_024306509.1:p.Lys549Asn
XR_934021.2:n.1714A>C
XR_934022.2:n.1620A>C
XR_934023.2:n.1620A>C
NM_000018.4:c.1659A>C MANE Select	NP_000009.1:p.Lys553Asn
NM_001033859.3:c.1593A>C	NP_001029031.1:p.Lys531Asn
NM_001270447.2:c.1728A>C	NP_001257376.1:p.Lys576Asn
NM_001270448.2:c.1431A>C	NP_001257377.1:p.Lys477Asn

Linked Data

Genomic Alleles

Transcript Alleles