Canonical Allele Identifier: CA375685762

Gene: ABO

Linked Data

• gnomAD v4: 9-133256081-C-A
• MyVariant Identifiers: chr9:g.136131468C>A (hg19) ; chr9:g.133256081C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256081C>A , CM000671.2:g.133256081C>A	GRCh38
NC_000009.11:g.136131468C>A , CM000671.1:g.136131468C>A	GRCh37
NC_000009.10:g.135121289C>A	NCBI36
NG_006669.1:g.21587G>T
NG_006669.2:g.24135G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.679G>T
ENST00000647353.1:n.54-4929G>T
ENST00000679909.1:c.28+19081G>T	ENSP00000506089.1:n.28+19081G>T
ENST00000453660.3:n.661G>T
ENST00000538324.2:c.647G>T	ENSP00000483018.1:p.Arg216Leu
ENST00000611156.4:c.647G>T	ENSP00000483265.1:p.Arg216Leu
NM_020469.2:c.650G>T	NP_065202.2:p.Arg217Leu
NM_020469.3:c.650G>T	NP_065202.2:p.Arg217Leu