ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685405
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131401G>T (hg19)
chr9:g.133256014G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256014G>T , CM000671.2:g.133256014G>T
GRCh38
NC_000009.11:g.136131401G>T , CM000671.1:g.136131401G>T
GRCh37
NC_000009.10:g.135121222G>T
NCBI36
NG_006669.1:g.21654C>A
NG_006669.2:g.24202C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.746C>A
ENST00000647353.1:n.54-4862C>A
ENST00000679909.1:c.28+19148C>A
ENSP00000506089.1:n.28+19148C>A
ENST00000453660.3:n.728C>A
ENST00000538324.2:c.714C>A
ENSP00000483018.1:p.Ser238Arg
ENST00000611156.4:c.714C>A
ENSP00000483265.1:p.Ser238Arg
NM_020469.2:c.717C>A
NP_065202.2:p.Ser239Arg
NM_020469.3:c.717C>A
NP_065202.2:p.Ser239Arg
Search 100 bp 5'
Search 100 bp 3'