Canonical Allele Identifier: CA375686128

Gene: ABO

Linked Data

• dbSNP Id: rs1834577355
• MyVariant Identifiers: chr9:g.136131561A>G (hg19) ; chr9:g.133256174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256174A>G , CM000671.2:g.133256174A>G	GRCh38
NC_000009.11:g.136131561A>G , CM000671.1:g.136131561A>G	GRCh37
NC_000009.10:g.135121382A>G	NCBI36
NG_006669.1:g.21494T>C
NG_006669.2:g.24042T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.586T>C
ENST00000647353.1:n.54-5022T>C
ENST00000651471.1:n.512T>C
ENST00000679909.1:c.28+18988T>C	ENSP00000506089.1:n.28+18988T>C
ENST00000453660.3:n.568T>C
ENST00000538324.2:c.554T>C	ENSP00000483018.1:p.Met185Thr
ENST00000611156.4:c.554T>C	ENSP00000483265.1:p.Met185Thr
NM_020469.2:c.557T>C	NP_065202.2:p.Met186Thr
NM_020469.3:c.557T>C	NP_065202.2:p.Met186Thr