ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685223
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131344C>G (hg19)
chr9:g.133255957C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255957C>G , CM000671.2:g.133255957C>G
GRCh38
NC_000009.11:g.136131344C>G , CM000671.1:g.136131344C>G
GRCh37
NC_000009.10:g.135121165C>G
NCBI36
NG_006669.1:g.21711G>C
NG_006669.2:g.24259G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.803G>C
ENST00000647353.1:n.54-4805G>C
ENST00000679909.1:c.28+19205G>C
ENSP00000506089.1:n.28+19205G>C
ENST00000453660.3:n.785G>C
ENST00000538324.2:c.771G>C
ENSP00000483018.1:p.Lys257Asn
ENST00000611156.4:c.771G>C
ENSP00000483265.1:p.Lys257Asn
NM_020469.2:c.774G>C
NP_065202.2:p.Lys258Asn
NM_020469.3:c.774G>C
NP_065202.2:p.Lys258Asn
Search 100 bp 5'
Search 100 bp 3'