Canonical Allele Identifier: CA5305664

Gene: ABO

Linked Data

• dbSNP Id: rs201604341
• ExAC: 9:136131119 G / A
• gnomAD v2: 9-136131119-G-A
• gnomAD v3: 9-133255732-G-A
• gnomAD v4: 9-133255732-G-A
• MyVariant Identifiers: chr9:g.136131119G>A (hg19) ; chr9:g.133255732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255732G>A , CM000671.2:g.133255732G>A	GRCh38
NC_000009.11:g.136131119G>A , CM000671.1:g.136131119G>A	GRCh37
NC_000009.10:g.135120940G>A	NCBI36
NG_006669.1:g.21936C>T
NG_006669.2:g.24484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1028C>T
ENST00000647353.1:n.54-4580C>T
ENST00000679909.1:c.28+19430C>T	ENSP00000506089.1:n.28+19430C>T
ENST00000453660.3:n.1010C>T
ENST00000538324.2:c.996C>T	ENSP00000483018.1:p.Pro332=
ENST00000611156.4:c.996C>T	ENSP00000483265.1:p.Pro332=
NM_020469.2:c.999C>T	NP_065202.2:p.Pro333=
NM_020469.3:c.999C>T	NP_065202.2:p.Pro333=