Canonical Allele Identifier: CA338567676
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 958514
ClinVar RCV Id: RCV001231698
dbSNP Id: rs1708203951
COSMIC: COSM5377998
MyVariant Identifiers: chr1:g.15772095G>A (hg19) chr1:g.15445600G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445600G>A , CM000663.2:g.15445600G>A GRCh38
NC_000001.10:g.15772095G>A , CM000663.1:g.15772095G>A GRCh37
NC_000001.9:g.15644682G>A NCBI36
NG_009253.1:g.12158G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.643G>A MANE Select ENSP00000365116.4:p.Asp215Asn
ENST00000375943.6:c.*97G>A ENSP00000365110.2:n.*97G>A
ENST00000375949.4:c.643G>A ENSP00000365116.4:p.Asp215Asn
ENST00000483406.1:n.407G>A
NM_007272.2:c.643G>A NP_009203.2:p.Asp215Asn
XM_011540550.1:c.497G>A XP_011538852.1:p.Gly166Glu
NM_007272.3:c.643G>A MANE Select NP_009203.2:p.Asp215Asn
Search 100 bp 5'
Search 100 bp 3'