Canonical Allele Identifier: CA375683422

Gene: ABO

Linked Data

• gnomAD v4: 9-133255708-G-C
• MyVariant Identifiers: chr9:g.136131095G>C (hg19) ; chr9:g.133255708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255708G>C , CM000671.2:g.133255708G>C	GRCh38
NC_000009.11:g.136131095G>C , CM000671.1:g.136131095G>C	GRCh37
NC_000009.10:g.135120916G>C	NCBI36
NG_006669.1:g.21960C>G
NG_006669.2:g.24508C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1052C>G
ENST00000647353.1:n.54-4556C>G
ENST00000679909.1:c.28+19454C>G	ENSP00000506089.1:n.28+19454C>G
ENST00000453660.3:n.1034C>G
ENST00000538324.2:c.1020C>G	ENSP00000483018.1:p.Phe340Leu
ENST00000611156.4:c.1020C>G	ENSP00000483265.1:p.Phe340Leu
NM_020469.2:c.1023C>G	NP_065202.2:p.Phe341Leu
NM_020469.3:c.1023C>G	NP_065202.2:p.Phe341Leu