Canonical Allele Identifier: CA200765603

Gene: ABO

Linked Data

• dbSNP Id: rs1011506691
• gnomAD v2: 9-136131739-C-T
• gnomAD v3: 9-133256352-C-T
• gnomAD v4: 9-133256352-C-T
• MyVariant Identifiers: chr9:g.136131739C>T (hg19) ; chr9:g.133256352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256352C>T , CM000671.2:g.133256352C>T	GRCh38
NC_000009.11:g.136131739C>T , CM000671.1:g.136131739C>T	GRCh37
NC_000009.10:g.135121560C>T	NCBI36
NG_006669.1:g.21316G>A
NG_006669.2:g.23864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.408G>A
ENST00000647353.1:n.54-5200G>A
ENST00000651471.1:n.334G>A
ENST00000679909.1:c.28+18810G>A	ENSP00000506089.1:n.28+18810G>A
ENST00000453660.3:n.390G>A
ENST00000538324.2:c.376G>A	ENSP00000483018.1:p.Val126Met
ENST00000611156.4:c.376G>A	ENSP00000483265.1:p.Val126Met
NM_020469.2:c.379G>A	NP_065202.2:p.Val127Met
NM_020469.3:c.379G>A	NP_065202.2:p.Val127Met