Canonical Allele Identifier: CA416207360
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1126414
ClinVar RCV Id: RCV001458457
dbSNP Id: rs1389820334
gnomAD v4: 1-15445638-T-A
MyVariant Identifiers: chr1:g.15772133T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445638T>A , CM000663.2:g.15445638T>A GRCh38
NC_000001.10:g.15772133T>A , CM000663.1:g.15772133T>A GRCh37
NC_000001.9:g.15644720T>A NCBI36
NG_009253.1:g.12196T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.681T>A MANE Select ENSP00000365116.4:p.Gly227=
ENST00000375943.6:c.*135T>A ENSP00000365110.2:n.*135T>A
ENST00000375949.4:c.681T>A ENSP00000365116.4:p.Gly227=
ENST00000483406.1:n.445T>A
NM_007272.2:c.681T>A NP_009203.2:p.Gly227=
XM_011540550.1:c.535T>A XP_011538852.1:p.Phe179Ile
NM_007272.3:c.681T>A MANE Select NP_009203.2:p.Gly227=
Search 100 bp 5'
Search 100 bp 3'