ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375686526
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133257410T>A
GRCh37
chr9:g.136132797T>A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257410T>A , CM000671.2:g.133257410T>A
GRCh38
NC_000009.11:g.136132797T>A , CM000671.1:g.136132797T>A
GRCh37
NC_000009.10:g.135122618T>A
NCBI36
NG_006669.1:g.20258A>T
NG_006669.2:g.22806A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.402A>T
ENST00000647353.1:n.54-6258A>T
ENST00000651471.1:n.329+632A>T
ENST00000679909.1:c.28+17752A>T
ENSP00000506089.1:n.28+17752A>T
ENST00000453660.3:n.384A>T
ENST00000538324.2:c.370A>T
ENSP00000483018.1:p.Lys124Ter
ENST00000611156.4:c.370A>T
ENSP00000483265.1:p.Lys124Ter
NM_020469.2:c.373A>T
NP_065202.2:p.Lys125Ter
NM_020469.3:c.373A>T
NP_065202.2:p.Lys125Ter
Search 100 bp 5'
Search 100 bp 3'