Canonical Allele Identifier: CA18250587
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 3226055
ClinVar RCV Id: RCV004517325
dbSNP Id: rs866213803

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440530A>G , CM000663.2:g.15440530A>G GRCh38
NC_000001.10:g.15767026A>G , CM000663.1:g.15767026A>G GRCh37
NC_000001.9:g.15639613A>G NCBI36
NG_009253.1:g.7089A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.170A>G MANE Select ENSP00000365116.4:p.His57Arg
ENST00000375943.6:c.41-1917A>G ENSP00000365110.2:n.41-1917A>G
ENST00000375949.4:c.170A>G ENSP00000365116.4:p.His57Arg
ENST00000476813.5:n.53-1917A>G
ENST00000483406.1:n.80A>G
NM_007272.2:c.170A>G NP_009203.2:p.His57Arg
XM_011540550.1:c.170A>G XP_011538852.1:p.His57Arg
NM_007272.3:c.170A>G MANE Select NP_009203.2:p.His57Arg