Canonical Allele Identifier: CA613441
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 826625
ClinVar RCV Id: RCV002363541
dbSNP Id: rs567745213
ExAC: 1:15772131 G / A
gnomAD v2: 1-15772131-G-A
gnomAD v3: 1-15445636-G-A
gnomAD v4: 1-15445636-G-A
MyVariant Identifiers: chr1:g.15772131G>A (hg19) chr1:g.15445636G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445636G>A , CM000663.2:g.15445636G>A GRCh38
NC_000001.10:g.15772131G>A , CM000663.1:g.15772131G>A GRCh37
NC_000001.9:g.15644718G>A NCBI36
NG_009253.1:g.12194G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.679G>A MANE Select ENSP00000365116.4:p.Gly227Ser
ENST00000375943.6:c.*133G>A ENSP00000365110.2:n.*133G>A
ENST00000375949.4:c.679G>A ENSP00000365116.4:p.Gly227Ser
ENST00000483406.1:n.443G>A
NM_007272.2:c.679G>A NP_009203.2:p.Gly227Ser
XM_011540550.1:c.533G>A XP_011538852.1:p.Arg178Gln
NM_007272.3:c.679G>A MANE Select NP_009203.2:p.Gly227Ser
Search 100 bp 5'
Search 100 bp 3'