Canonical Allele Identifier: CA5305685

Gene: ABO

Linked Data

• dbSNP Id: rs782586438
• ExAC: 9:136131191 G / T
• gnomAD v2: 9-136131191-G-T
• gnomAD v3: 9-133255804-G-T
• gnomAD v4: 9-133255804-G-T
• MyVariant Identifiers: chr9:g.136131191G>T (hg19) ; chr9:g.133255804G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255804G>T , CM000671.2:g.133255804G>T	GRCh38
NC_000009.11:g.136131191G>T , CM000671.1:g.136131191G>T	GRCh37
NC_000009.10:g.135121012G>T	NCBI36
NG_006669.1:g.21864C>A
NG_006669.2:g.24412C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.956C>A
ENST00000647353.1:n.54-4652C>A
ENST00000679909.1:c.28+19358C>A	ENSP00000506089.1:n.28+19358C>A
ENST00000453660.3:n.938C>A
ENST00000538324.2:c.924C>A	ENSP00000483018.1:p.Tyr308Ter
ENST00000611156.4:c.924C>A	ENSP00000483265.1:p.Tyr308Ter
NM_020469.2:c.927C>A	NP_065202.2:p.Tyr309Ter
NM_020469.3:c.927C>A	NP_065202.2:p.Tyr309Ter