Canonical Allele Identifier: CA375686215

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131604C>G (hg19) ; chr9:g.133256217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256217C>G , CM000671.2:g.133256217C>G	GRCh38
NC_000009.11:g.136131604C>G , CM000671.1:g.136131604C>G	GRCh37
NC_000009.10:g.135121425C>G	NCBI36
NG_006669.1:g.21451G>C
NG_006669.2:g.23999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.543G>C
ENST00000647353.1:n.54-5065G>C
ENST00000651471.1:n.469G>C
ENST00000679909.1:c.28+18945G>C	ENSP00000506089.1:n.28+18945G>C
ENST00000453660.3:n.525G>C
ENST00000538324.2:c.511G>C	ENSP00000483018.1:p.Val171Leu
ENST00000611156.4:c.511G>C	ENSP00000483265.1:p.Val171Leu
NM_020469.2:c.514G>C	NP_065202.2:p.Val172Leu
NM_020469.3:c.514G>C	NP_065202.2:p.Val172Leu