ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685792
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256088-C-A
MyVariant Identifiers:
chr9:g.136131475C>A (hg19)
chr9:g.133256088C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256088C>A , CM000671.2:g.133256088C>A
GRCh38
NC_000009.11:g.136131475C>A , CM000671.1:g.136131475C>A
GRCh37
NC_000009.10:g.135121296C>A
NCBI36
NG_006669.1:g.21580G>T
NG_006669.2:g.24128G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.672G>T
ENST00000647353.1:n.54-4936G>T
ENST00000679909.1:c.28+19074G>T
ENSP00000506089.1:n.28+19074G>T
ENST00000453660.3:n.654G>T
ENST00000538324.2:c.640G>T
ENSP00000483018.1:p.Glu214Ter
ENST00000611156.4:c.640G>T
ENSP00000483265.1:p.Glu214Ter
NM_020469.2:c.643G>T
NP_065202.2:p.Glu215Ter
NM_020469.3:c.643G>T
NP_065202.2:p.Glu215Ter
Search 100 bp 5'
Search 100 bp 3'