Canonical Allele Identifier: CA375686493

Gene: ABO

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.408G>T
ENST00000647353.1:n.54-5200G>T
ENST00000651471.1:n.334G>T
ENST00000679909.1:c.28+18810G>T	ENSP00000506089.1:n.28+18810G>T
ENST00000453660.3:n.390G>T
ENST00000538324.2:c.376G>T	ENSP00000483018.1:p.Val126Leu
ENST00000611156.4:c.376G>T	ENSP00000483265.1:p.Val126Leu
NM_020469.2:c.379G>T	NP_065202.2:p.Val127Leu
NM_020469.3:c.379G>T	NP_065202.2:p.Val127Leu