ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375684063
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131186A>T (hg19)
chr9:g.133255799A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255799A>T , CM000671.2:g.133255799A>T
GRCh38
NC_000009.11:g.136131186A>T , CM000671.1:g.136131186A>T
GRCh37
NC_000009.10:g.135121007A>T
NCBI36
NG_006669.1:g.21869T>A
NG_006669.2:g.24417T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.961T>A
ENST00000647353.1:n.54-4647T>A
ENST00000679909.1:c.28+19363T>A
ENSP00000506089.1:n.28+19363T>A
ENST00000453660.3:n.943T>A
ENST00000538324.2:c.929T>A
ENSP00000483018.1:p.Leu310Gln
ENST00000611156.4:c.929T>A
ENSP00000483265.1:p.Leu310Gln
NM_020469.2:c.932T>A
NP_065202.2:p.Leu311Gln
NM_020469.3:c.932T>A
NP_065202.2:p.Leu311Gln
Search 100 bp 5'
Search 100 bp 3'