Canonical Allele Identifier: CA613464
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 827156
dbSNP Id: rs755811899
gnomAD v2: 1-15772213-G-C
gnomAD v3: 1-15445718-G-C
gnomAD v4: 1-15445718-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445718G>C , CM000663.2:g.15445718G>C GRCh38
NC_000001.10:g.15772213G>C , CM000663.1:g.15772213G>C GRCh37
NC_000001.9:g.15644800G>C NCBI36
NG_009253.1:g.12276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.761G>C MANE Select ENSP00000365116.4:p.Arg254Pro
ENST00000375943.6:c.*215G>C ENSP00000365110.2:n.*215G>C
ENST00000375949.4:c.761G>C ENSP00000365116.4:p.Arg254Pro
ENST00000483406.1:n.525G>C
NM_007272.2:c.761G>C NP_009203.2:p.Arg254Pro
XM_011540550.1:c.615G>C XP_011538852.1:p.Pro205=
NM_007272.3:c.761G>C MANE Select NP_009203.2:p.Arg254Pro