Canonical Allele Identifier: CA416207431
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1759890
ClinVar RCV Id: RCV002396308
MyVariant Identifiers: chr1:g.15772214G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445719G>C , CM000663.2:g.15445719G>C GRCh38
NC_000001.10:g.15772214G>C , CM000663.1:g.15772214G>C GRCh37
NC_000001.9:g.15644801G>C NCBI36
NG_009253.1:g.12277G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.762G>C MANE Select ENSP00000365116.4:p.Arg254=
ENST00000375943.6:c.*216G>C ENSP00000365110.2:n.*216G>C
ENST00000375949.4:c.762G>C ENSP00000365116.4:p.Arg254=
ENST00000483406.1:n.526G>C
NM_007272.2:c.762G>C NP_009203.2:p.Arg254=
XM_011540550.1:c.616G>C XP_011538852.1:p.Gly206Arg
NM_007272.3:c.762G>C MANE Select NP_009203.2:p.Arg254=
Search 100 bp 5'
Search 100 bp 3'