Canonical Allele Identifier: CA375686132

Gene: ABO

Linked Data

• dbSNP Id: rs1273200931
• gnomAD v2: 9-136131564-G-A
• MyVariant Identifiers: chr9:g.136131564G>A (hg19) ; chr9:g.133256177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256177G>A , CM000671.2:g.133256177G>A	GRCh38
NC_000009.11:g.136131564G>A , CM000671.1:g.136131564G>A	GRCh37
NC_000009.10:g.135121385G>A	NCBI36
NG_006669.1:g.21491C>T
NG_006669.2:g.24039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.583C>T
ENST00000647353.1:n.54-5025C>T
ENST00000651471.1:n.509C>T
ENST00000679909.1:c.28+18985C>T	ENSP00000506089.1:n.28+18985C>T
ENST00000453660.3:n.565C>T
ENST00000538324.2:c.551C>T	ENSP00000483018.1:p.Ser184Phe
ENST00000611156.4:c.551C>T	ENSP00000483265.1:p.Ser184Phe
NM_020469.2:c.554C>T	NP_065202.2:p.Ser185Phe
NM_020469.3:c.554C>T	NP_065202.2:p.Ser185Phe