Canonical Allele Identifier: CA375685796

Gene: ABO

Linked Data

• gnomAD v4: 9-133256089-C-A
• MyVariant Identifiers: chr9:g.136131476C>A (hg19) ; chr9:g.133256089C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256089C>A , CM000671.2:g.133256089C>A	GRCh38
NC_000009.11:g.136131476C>A , CM000671.1:g.136131476C>A	GRCh37
NC_000009.10:g.135121297C>A	NCBI36
NG_006669.1:g.21579G>T
NG_006669.2:g.24127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.671G>T
ENST00000647353.1:n.54-4937G>T
ENST00000679909.1:c.28+19073G>T	ENSP00000506089.1:n.28+19073G>T
ENST00000453660.3:n.653G>T
ENST00000538324.2:c.639G>T	ENSP00000483018.1:p.Met213Ile
ENST00000611156.4:c.639G>T	ENSP00000483265.1:p.Met213Ile
NM_020469.2:c.642G>T	NP_065202.2:p.Met214Ile
NM_020469.3:c.642G>T	NP_065202.2:p.Met214Ile