Canonical Allele Identifier: CA338567934
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1759936
ClinVar RCV Id: RCV002396354
MyVariant Identifiers: chr1:g.15772215G>C (hg19) chr1:g.15445720G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445720G>C , CM000663.2:g.15445720G>C GRCh38
NC_000001.10:g.15772215G>C , CM000663.1:g.15772215G>C GRCh37
NC_000001.9:g.15644802G>C NCBI36
NG_009253.1:g.12278G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.763G>C MANE Select ENSP00000365116.4:p.Val255Leu
ENST00000375943.6:c.*217G>C ENSP00000365110.2:n.*217G>C
ENST00000375949.4:c.763G>C ENSP00000365116.4:p.Val255Leu
ENST00000483406.1:n.527G>C
NM_007272.2:c.763G>C NP_009203.2:p.Val255Leu
XM_011540550.1:c.617G>C XP_011538852.1:p.Gly206Ala
NM_007272.3:c.763G>C MANE Select NP_009203.2:p.Val255Leu
Search 100 bp 5'
Search 100 bp 3'