Canonical Allele Identifier: CA5305714

Gene: ABO

Linked Data

• dbSNP Id: rs8176748
• ExAC: 9:136131289 C / A
• gnomAD v2: 9-136131289-C-A
• MyVariant Identifiers: chr9:g.136131289C>A (hg19) ; chr9:g.133255902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255902C>A , CM000671.2:g.133255902C>A	GRCh38
NC_000009.11:g.136131289C>A , CM000671.1:g.136131289C>A	GRCh37
NC_000009.10:g.135121110C>A	NCBI36
NG_006669.1:g.21766G>T
NG_006669.2:g.24314G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.858G>T
ENST00000647353.1:n.54-4750G>T
ENST00000679909.1:c.28+19260G>T	ENSP00000506089.1:n.28+19260G>T
ENST00000453660.3:n.840G>T
ENST00000538324.2:c.826G>T	ENSP00000483018.1:p.Val276Leu
ENST00000611156.4:c.826G>T	ENSP00000483265.1:p.Val276Leu
NM_020469.2:c.829G>T	NP_065202.2:p.Val277Leu
NM_020469.3:c.829G>T	NP_065202.2:p.Val277Leu