Canonical Allele Identifier: CA338567788
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 3226085
ClinVar RCV Id: RCV004519320
MyVariant Identifiers: chr1:g.15772147T>C (hg19) chr1:g.15445652T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445652T>C , CM000663.2:g.15445652T>C GRCh38
NC_000001.10:g.15772147T>C , CM000663.1:g.15772147T>C GRCh37
NC_000001.9:g.15644734T>C NCBI36
NG_009253.1:g.12210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.695T>C MANE Select ENSP00000365116.4:p.Phe232Ser
ENST00000375943.6:c.*149T>C ENSP00000365110.2:n.*149T>C
ENST00000375949.4:c.695T>C ENSP00000365116.4:p.Phe232Ser
ENST00000483406.1:n.459T>C
NM_007272.2:c.695T>C NP_009203.2:p.Phe232Ser
XM_011540550.1:c.549T>C XP_011538852.1:p.Val183=
NM_007272.3:c.695T>C MANE Select NP_009203.2:p.Phe232Ser
Search 100 bp 5'
Search 100 bp 3'