Canonical Allele Identifier: CA375683480

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131102A>T (hg19) ; chr9:g.133255715A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255715A>T , CM000671.2:g.133255715A>T	GRCh38
NC_000009.11:g.136131102A>T , CM000671.1:g.136131102A>T	GRCh37
NC_000009.10:g.135120923A>T	NCBI36
NG_006669.1:g.21953T>A
NG_006669.2:g.24501T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1045T>A
ENST00000647353.1:n.54-4563T>A
ENST00000679909.1:c.28+19447T>A	ENSP00000506089.1:n.28+19447T>A
ENST00000453660.3:n.1027T>A
ENST00000538324.2:c.1013T>A	ENSP00000483018.1:p.Leu338Gln
ENST00000611156.4:c.1013T>A	ENSP00000483265.1:p.Leu338Gln
NM_020469.2:c.1016T>A	NP_065202.2:p.Leu339Gln
NM_020469.3:c.1016T>A	NP_065202.2:p.Leu339Gln