Canonical Allele Identifier: CA375686237

Gene: ABO

Linked Data

• gnomAD v4: 9-133256228-C-G
• MyVariant Identifiers: chr9:g.136131615C>G (hg19) ; chr9:g.133256228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256228C>G , CM000671.2:g.133256228C>G	GRCh38
NC_000009.11:g.136131615C>G , CM000671.1:g.136131615C>G	GRCh37
NC_000009.10:g.135121436C>G	NCBI36
NG_006669.1:g.21440G>C
NG_006669.2:g.23988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.532G>C
ENST00000647353.1:n.54-5076G>C
ENST00000651471.1:n.458G>C
ENST00000679909.1:c.28+18934G>C	ENSP00000506089.1:n.28+18934G>C
ENST00000453660.3:n.514G>C
ENST00000538324.2:c.500G>C	ENSP00000483018.1:p.Arg167Pro
ENST00000611156.4:c.500G>C	ENSP00000483265.1:p.Arg167Pro
NM_020469.2:c.503G>C	NP_065202.2:p.Arg168Pro
NM_020469.3:c.503G>C	NP_065202.2:p.Arg168Pro