Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224502T>A , CM000679.2:g.7224502T>A	GRCh38
NC_000017.10:g.7127821T>A , CM000679.1:g.7127821T>A	GRCh37
NC_000017.9:g.7068545T>A	NCBI36
NG_007975.1:g.9669T>A
NG_008391.2:g.549A>T
NG_033038.1:g.15043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1628T>A MANE Select	ENSP00000349297.5:p.Phe543Tyr
ENST00000322910.9:c.*1583T>A	ENSP00000325395.5:n.*1583T>A
ENST00000350303.9:c.1562T>A	ENSP00000344152.5:p.Phe521Tyr
ENST00000356839.9:c.1628T>A	ENSP00000349297.5:p.Phe543Tyr
ENST00000542255.6:c.486T>A
ENST00000543245.6:c.1697T>A	ENSP00000438689.2:p.Phe566Tyr
ENST00000578319.5:n.209T>A
ENST00000578711.1:n.998T>A
ENST00000578809.5:n.200T>A
ENST00000579391.1:n.232T>A
ENST00000579425.5:n.744T>A
ENST00000579546.1:c.363T>A
ENST00000579894.5:n.415T>A
ENST00000582450.1:n.136T>A
ENST00000583074.5:n.249T>A
ENST00000583848.5:c.14T>A	ENSP00000466487.1:p.Phe5Tyr
ENST00000583850.5:n.399T>A
ENST00000583858.5:c.559T>A
ENST00000585203.6:n.819T>A
NM_000018.3:c.1628T>A	NP_000009.1:p.Phe543Tyr
NM_001033859.2:c.1562T>A	NP_001029031.1:p.Phe521Tyr
NM_001270447.1:c.1697T>A	NP_001257376.1:p.Phe566Tyr
NM_001270448.1:c.1400T>A	NP_001257377.1:p.Phe467Tyr
XM_006721516.2:c.1628T>A	XP_006721579.2:p.Phe543Tyr
XM_011523829.1:c.1526T>A	XP_011522131.1:p.Phe509Tyr
XM_011523830.1:c.1526T>A	XP_011522132.1:p.Phe509Tyr
XR_934021.1:n.1731T>A
XR_934022.1:n.1637T>A
XR_934023.1:n.1637T>A
XM_006721516.3:c.1628T>A	XP_006721579.2:p.Phe543Tyr
XM_011523829.2:c.1526T>A	XP_011522131.1:p.Phe509Tyr
XM_011523830.2:c.1526T>A	XP_011522132.1:p.Phe509Tyr
XM_024450741.1:c.1616T>A	XP_024306509.1:p.Phe539Tyr
XR_934021.2:n.1683T>A
XR_934022.2:n.1589T>A
XR_934023.2:n.1589T>A
NM_000018.4:c.1628T>A MANE Select	NP_000009.1:p.Phe543Tyr
NM_001033859.3:c.1562T>A	NP_001029031.1:p.Phe521Tyr
NM_001270447.2:c.1697T>A	NP_001257376.1:p.Phe566Tyr
NM_001270448.2:c.1400T>A	NP_001257377.1:p.Phe467Tyr

Linked Data

Genomic Alleles

Transcript Alleles