Canonical Allele Identifier: CA338567718
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 645636
ClinVar RCV Id: RCV000799762
dbSNP Id: rs1570786538
MyVariant Identifiers: chr1:g.15772116T>C (hg19) chr1:g.15445621T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445621T>C , CM000663.2:g.15445621T>C GRCh38
NC_000001.10:g.15772116T>C , CM000663.1:g.15772116T>C GRCh37
NC_000001.9:g.15644703T>C NCBI36
NG_009253.1:g.12179T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.664T>C MANE Select ENSP00000365116.4:p.Cys222Arg
ENST00000375943.6:c.*118T>C ENSP00000365110.2:n.*118T>C
ENST00000375949.4:c.664T>C ENSP00000365116.4:p.Cys222Arg
ENST00000483406.1:n.428T>C
NM_007272.2:c.664T>C NP_009203.2:p.Cys222Arg
XM_011540550.1:c.518T>C XP_011538852.1:p.Leu173Pro
NM_007272.3:c.664T>C MANE Select NP_009203.2:p.Cys222Arg
Search 100 bp 5'
Search 100 bp 3'