Canonical Allele Identifier: CA416207383
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1757512
ClinVar RCV Id: RCV002378431
gnomAD v4: 1-15445674-C-T
MyVariant Identifiers: chr1:g.15772169C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445674C>T , CM000663.2:g.15445674C>T GRCh38
NC_000001.10:g.15772169C>T , CM000663.1:g.15772169C>T GRCh37
NC_000001.9:g.15644756C>T NCBI36
NG_009253.1:g.12232C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.717C>T MANE Select ENSP00000365116.4:p.Ser239=
ENST00000375943.6:c.*171C>T ENSP00000365110.2:n.*171C>T
ENST00000375949.4:c.717C>T ENSP00000365116.4:p.Ser239=
ENST00000483406.1:n.481C>T
NM_007272.2:c.717C>T NP_009203.2:p.Ser239=
XM_011540550.1:c.571C>T XP_011538852.1:p.Pro191Ser
NM_007272.3:c.717C>T MANE Select NP_009203.2:p.Ser239=
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