Canonical Allele Identifier: CA416207425
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 876737
ClinVar RCV Id: RCV001101882
dbSNP Id: rs1325006359
gnomAD v3: 1-15445716-C-T
gnomAD v4: 1-15445716-C-T
MyVariant Identifiers: chr1:g.15772211C>T (hg19) chr1:g.15445716C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445716C>T , CM000663.2:g.15445716C>T GRCh38
NC_000001.10:g.15772211C>T , CM000663.1:g.15772211C>T GRCh37
NC_000001.9:g.15644798C>T NCBI36
NG_009253.1:g.12274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.759C>T MANE Select ENSP00000365116.4:p.Thr253=
ENST00000375943.6:c.*213C>T ENSP00000365110.2:n.*213C>T
ENST00000375949.4:c.759C>T ENSP00000365116.4:p.Thr253=
ENST00000483406.1:n.523C>T
NM_007272.2:c.759C>T NP_009203.2:p.Thr253=
XM_011540550.1:c.613C>T XP_011538852.1:p.Pro205Ser
NM_007272.3:c.759C>T MANE Select NP_009203.2:p.Thr253=
Search 100 bp 5'
Search 100 bp 3'