Canonical Allele Identifier: CA16616982
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 420177
ClinVar RCV Id: RCV000483666 RCV001856839
dbSNP Id: rs202058123
gnomAD v3: 1-15445606-G-C
gnomAD v4: 1-15445606-G-C
MyVariant Identifiers: chr1:g.15772101G>C (hg19) chr1:g.15445606G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445606G>C , CM000663.2:g.15445606G>C GRCh38
NC_000001.10:g.15772101G>C , CM000663.1:g.15772101G>C GRCh37
NC_000001.9:g.15644688G>C NCBI36
NG_009253.1:g.12164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.649G>C MANE Select ENSP00000365116.4:p.Gly217Arg
ENST00000375943.6:c.*103G>C ENSP00000365110.2:n.*103G>C
ENST00000375949.4:c.649G>C ENSP00000365116.4:p.Gly217Arg
ENST00000483406.1:n.413G>C
NM_007272.2:c.649G>C NP_009203.2:p.Gly217Arg
XM_011540550.1:c.503G>C XP_011538852.1:p.Arg168Pro
NM_007272.3:c.649G>C MANE Select NP_009203.2:p.Gly217Arg
Search 100 bp 5'
Search 100 bp 3'