Canonical Allele Identifier: CA5305781

Gene: ABO

Linked Data

• dbSNP Id: rs375174031
• ExAC: 9:136131476 C / T
• gnomAD v2: 9-136131476-C-T
• gnomAD v3: 9-133256089-C-T
• gnomAD v4: 9-133256089-C-T
• MyVariant Identifiers: chr9:g.136131476C>T (hg19) ; chr9:g.133256089C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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