ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685811
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs964984014
gnomAD v2:
9-136131478-T-A
gnomAD v4:
9-133256091-T-A
MyVariant Identifiers:
chr9:g.136131478T>A (hg19)
chr9:g.136131478_136131484delinsAGTCCAC (hg19)
chr9:g.133256091T>A (hg38)
chr9:g.133256091_133256097delinsAGTCCAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256091T>A , CM000671.2:g.133256091T>A
GRCh38
NC_000009.11:g.136131478T>A , CM000671.1:g.136131478T>A
GRCh37
NC_000009.10:g.135121299T>A
NCBI36
NG_006669.1:g.21577A>T
NG_006669.2:g.24125A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.669A>T
ENST00000647353.1:n.54-4939A>T
ENST00000679909.1:c.28+19071A>T
ENSP00000506089.1:n.28+19071A>T
ENST00000453660.3:n.651A>T
ENST00000538324.2:c.637A>T
ENSP00000483018.1:p.Met213Leu
ENST00000611156.4:c.637A>T
ENSP00000483265.1:p.Met213Leu
NM_020469.2:c.640A>T
NP_065202.2:p.Met214Leu
NM_020469.3:c.640A>T
NP_065202.2:p.Met214Leu
Search 100 bp 5'
Search 100 bp 3'