Canonical Allele Identifier: CA5305837

Gene: ABO

Linked Data

• dbSNP Id: rs8176738
• ExAC: 9:136131636 C / A
• gnomAD v2: 9-136131636-C-A
• gnomAD v3: 9-133256249-C-A
• gnomAD v4: 9-133256249-C-A
• MyVariant Identifiers: chr9:g.136131636C>A (hg19) ; chr9:g.133256249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256249C>A , CM000671.2:g.133256249C>A	GRCh38
NC_000009.11:g.136131636C>A , CM000671.1:g.136131636C>A	GRCh37
NC_000009.10:g.135121457C>A	NCBI36
NG_006669.1:g.21419G>T
NG_006669.2:g.23967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.511G>T
ENST00000647353.1:n.54-5097G>T
ENST00000651471.1:n.437G>T
ENST00000679909.1:c.28+18913G>T	ENSP00000506089.1:n.28+18913G>T
ENST00000453660.3:n.493G>T
ENST00000538324.2:c.479G>T	ENSP00000483018.1:p.Arg160Leu
ENST00000611156.4:c.479G>T	ENSP00000483265.1:p.Arg160Leu
NM_020469.2:c.482G>T	NP_065202.2:p.Arg161Leu
NM_020469.3:c.482G>T	NP_065202.2:p.Arg161Leu