Canonical Allele Identifier: CA5305706

Gene: ABO

Linked Data

• dbSNP Id: rs782673243
• ExAC: 9:136131268 A / T
• gnomAD v2: 9-136131268-A-T
• gnomAD v3: 9-133255881-A-T
• gnomAD v4: 9-133255881-A-T
• MyVariant Identifiers: chr9:g.136131268A>T (hg19) ; chr9:g.133255881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255881A>T , CM000671.2:g.133255881A>T	GRCh38
NC_000009.11:g.136131268A>T , CM000671.1:g.136131268A>T	GRCh37
NC_000009.10:g.135121089A>T	NCBI36
NG_006669.1:g.21787T>A
NG_006669.2:g.24335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.879T>A
ENST00000647353.1:n.54-4729T>A
ENST00000679909.1:c.28+19281T>A	ENSP00000506089.1:n.28+19281T>A
ENST00000453660.3:n.861T>A
ENST00000538324.2:c.847T>A	ENSP00000483018.1:p.Cys283Ser
ENST00000611156.4:c.847T>A	ENSP00000483265.1:p.Cys283Ser
NM_020469.2:c.850T>A	NP_065202.2:p.Cys284Ser
NM_020469.3:c.850T>A	NP_065202.2:p.Cys284Ser