Canonical Allele Identifier: CA5305810

Gene: ABO

Linked Data

• dbSNP Id: rs55727303
• ExAC: 9:136131576 C / T
• gnomAD v2: 9-136131576-C-T
• gnomAD v3: 9-133256189-C-T
• gnomAD v4: 9-133256189-C-T
• MyVariant Identifiers: chr9:g.136131576C>T (hg19) ; chr9:g.133256189C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256189C>T , CM000671.2:g.133256189C>T	GRCh38
NC_000009.11:g.136131576C>T , CM000671.1:g.136131576C>T	GRCh37
NC_000009.10:g.135121397C>T	NCBI36
NG_006669.1:g.21479G>A
NG_006669.2:g.24027G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.571G>A
ENST00000647353.1:n.54-5037G>A
ENST00000651471.1:n.497G>A
ENST00000679909.1:c.28+18973G>A	ENSP00000506089.1:n.28+18973G>A
ENST00000453660.3:n.553G>A
ENST00000538324.2:c.539G>A	ENSP00000483018.1:p.Trp180Ter
ENST00000611156.4:c.539G>A	ENSP00000483265.1:p.Trp180Ter
NM_020469.2:c.542G>A	NP_065202.2:p.Trp181Ter
NM_020469.3:c.542G>A	NP_065202.2:p.Trp181Ter