Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551934A>T , CM000664.2:g.85551934A>T	GRCh38
NC_000002.11:g.85779057A>T , CM000664.1:g.85779057A>T	GRCh37
NC_000002.10:g.85632568A>T	NCBI36
NG_011811.2:g.14601T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5965T>A
ENST00000482662.2:n.4372T>A
ENST00000685865.1:n.2324T>A
ENST00000687250.1:n.2024T>A
ENST00000687995.1:n.1839T>A
ENST00000688205.1:c.*1080T>A	ENSP00000509673.1:n.*1080T>A
ENST00000688788.1:n.1726T>A
ENST00000689276.1:c.1418T>A	ENSP00000510012.1:p.Phe473Tyr
ENST00000689576.1:c.*106T>A	ENSP00000508712.1:n.*106T>A
ENST00000690108.1:c.*1143T>A	ENSP00000510617.1:n.*1143T>A
ENST00000690468.1:c.*39T>A	ENSP00000509078.1:n.*39T>A
ENST00000690595.1:c.812T>A	ENSP00000508979.1:p.Phe271Tyr
ENST00000691348.1:c.*39T>A	ENSP00000509369.1:n.*39T>A
ENST00000691410.1:c.*1064T>A	ENSP00000508479.1:n.*1064T>A
ENST00000693287.1:c.803T>A	ENSP00000510264.1:p.Phe268Tyr
ENST00000693681.1:c.800T>A	ENSP00000510789.1:p.Phe267Tyr
ENST00000233838.9:c.1487T>A MANE Select	ENSP00000233838.3:p.Phe496Tyr
ENST00000233838.8:c.1487T>A	ENSP00000233838.3:p.Phe496Tyr
ENST00000430215.7:c.1316T>A	ENSP00000408045.3:p.Phe439Tyr
ENST00000465637.5:n.179-3930T>A
NM_000821.5:c.1487T>A	NP_000812.2:p.Phe496Tyr
NM_000821.6:c.1487T>A	NP_000812.2:p.Phe496Tyr
NM_001142269.2:c.1316T>A	NP_001135741.1:p.Phe439Tyr
NM_001142269.3:c.1316T>A	NP_001135741.1:p.Phe439Tyr
XM_005264259.3:c.1487T>A	XP_005264316.1:p.Phe496Tyr
XM_011532764.1:c.665T>A	XP_011531066.1:p.Phe222Tyr
XM_011532765.1:c.665T>A	XP_011531067.1:p.Phe222Tyr
XR_939677.1:n.1400T>A
XM_005264259.5:c.1487T>A	XP_005264316.1:p.Phe496Tyr
XM_011532764.3:c.665T>A	XP_011531066.1:p.Phe222Tyr
XM_011532765.3:c.665T>A	XP_011531067.1:p.Phe222Tyr
XM_017003803.2:c.1316T>A	XP_016859292.1:p.Phe439Tyr
XR_001738703.2:n.1400T>A
NM_000821.7:c.1487T>A MANE Select	NP_000812.2:p.Phe496Tyr
NM_001142269.4:c.1316T>A	NP_001135741.1:p.Phe439Tyr

Linked Data

Genomic Alleles

Transcript Alleles