Canonical Allele Identifier: CA375684093

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255802A>T , CM000671.2:g.133255802A>T	GRCh38
NC_000009.11:g.136131189A>T , CM000671.1:g.136131189A>T	GRCh37
NC_000009.10:g.135121010A>T	NCBI36
NG_006669.1:g.21866T>A
NG_006669.2:g.24414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.958T>A
ENST00000647353.1:n.54-4650T>A
ENST00000679909.1:c.28+19360T>A	ENSP00000506089.1:n.28+19360T>A
ENST00000453660.3:n.940T>A
ENST00000538324.2:c.926T>A	ENSP00000483018.1:p.Leu309Gln
ENST00000611156.4:c.926T>A	ENSP00000483265.1:p.Leu309Gln
NM_020469.2:c.929T>A	NP_065202.2:p.Leu310Gln
NM_020469.3:c.929T>A	NP_065202.2:p.Leu310Gln