Canonical Allele Identifier: CA375683419

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

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