Canonical Allele Identifier: CA613437
Gene: CTRC HGNC NCBI
COSMIC:
COSM5483604 (not active)
MyVariant.info:
GRCh38 chr1:g.15445606G>A
GRCh37 chr1:g.15772101G>A
Revel Score:
ENST00000375949 (MANE Select) 0.871
gnomAD v2:
1:15772101 G / A
gnomAD v3:
1:15445606 G / A
gnomAD v4:
chr1-15445606-G-A
Joint Max Group AF 0.00178649 (MID)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00160301 (MID)
ClinVar RCV:
RCV000493312
RCV000801338
ClinVar Variation:
430258
dbSNP:
202058123
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.649G>A MANE Select ENSP00000365116.4:p.Gly217Ser
ENST00000375943.6:c.*103G>A ENSP00000365110.2:n.*103G>A
ENST00000375949.4:c.649G>A ENSP00000365116.4:p.Gly217Ser
ENST00000483406.1:n.413G>A
NM_007272.2:c.649G>A NP_009203.2:p.Gly217Ser
XM_011540550.1:c.503G>A XP_011538852.1:p.Arg168Gln
NM_007272.3:c.649G>A MANE Select NP_009203.2:p.Gly217Ser
Search 100 bp 5'
Search 100 bp 3'