Canonical Allele Identifier: CA5305819

Gene: ABO

Linked Data

• dbSNP Id: rs781949872
• ExAC: 9:136131599 C / T
• gnomAD v2: 9-136131599-C-T
• gnomAD v3: 9-133256212-C-T
• gnomAD v4: 9-133256212-C-T
• MyVariant Identifiers: chr9:g.136131599C>T (hg19) ; chr9:g.133256212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256212C>T , CM000671.2:g.133256212C>T	GRCh38
NC_000009.11:g.136131599C>T , CM000671.1:g.136131599C>T	GRCh37
NC_000009.10:g.135121420C>T	NCBI36
NG_006669.1:g.21456G>A
NG_006669.2:g.24004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.548G>A
ENST00000647353.1:n.54-5060G>A
ENST00000651471.1:n.474G>A
ENST00000679909.1:c.28+18950G>A	ENSP00000506089.1:n.28+18950G>A
ENST00000453660.3:n.530G>A
ENST00000538324.2:c.516G>A	ENSP00000483018.1:p.Leu172=
ENST00000611156.4:c.516G>A	ENSP00000483265.1:p.Leu172=
NM_020469.2:c.519G>A	NP_065202.2:p.Leu173=
NM_020469.3:c.519G>A	NP_065202.2:p.Leu173=