Canonical Allele Identifier: CA375686480

Gene: ABO

Linked Data

• gnomAD v4: 9-133256345-A-G
• MyVariant Identifiers: chr9:g.136131732A>G (hg19) ; chr9:g.133256345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256345A>G , CM000671.2:g.133256345A>G	GRCh38
NC_000009.11:g.136131732A>G , CM000671.1:g.136131732A>G	GRCh37
NC_000009.10:g.135121553A>G	NCBI36
NG_006669.1:g.21323T>C
NG_006669.2:g.23871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.415T>C
ENST00000647353.1:n.54-5193T>C
ENST00000651471.1:n.341T>C
ENST00000679909.1:c.28+18817T>C	ENSP00000506089.1:n.28+18817T>C
ENST00000453660.3:n.397T>C
ENST00000538324.2:c.383T>C	ENSP00000483018.1:p.Phe128Ser
ENST00000611156.4:c.383T>C	ENSP00000483265.1:p.Phe128Ser
NM_020469.2:c.386T>C	NP_065202.2:p.Phe129Ser
NM_020469.3:c.386T>C	NP_065202.2:p.Phe129Ser