Canonical Allele Identifier: CA200771127

Gene: ABO

Linked Data

• dbSNP Id: rs8176641
• gnomAD v2: 9-136149802-C-G
• gnomAD v3: 9-133274386-C-G
• gnomAD v4: 9-133274386-C-G
• MyVariant Identifiers: chr9:g.136149802C>G (hg19) ; chr9:g.133274386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274386C>G , CM000671.2:g.133274386C>G	GRCh38
NC_000009.11:g.136149802C>G , CM000671.1:g.136149802C>G	GRCh37
NC_000009.10:g.135139623C>G	NCBI36
NG_006669.1:g.3248G>C
NG_006669.2:g.5829G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+776G>C
ENST00000647353.1:n.53+776G>C
ENST00000651471.1:n.63+1576G>C
ENST00000679909.1:c.28+776G>C	ENSP00000506089.1:n.28+776G>C
ENST00000453660.3:n.40+776G>C
ENST00000538324.2:c.28+776G>C	ENSP00000483018.1:n.28+776G>C
ENST00000611156.4:c.28+776G>C	ENSP00000483265.1:n.28+776G>C
NM_020469.2:c.28+776G>C	NP_065202.2:n.28+776G>C
NM_020469.3:c.28+776G>C	NP_065202.2:n.28+776G>C