Canonical Allele Identifier: CA338565008
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1777451
ClinVar RCV Id: RCV002395086
MyVariant Identifiers: chr1:g.15767021G>A (hg19) chr1:g.15440525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440525G>A , CM000663.2:g.15440525G>A GRCh38
NC_000001.10:g.15767021G>A , CM000663.1:g.15767021G>A GRCh37
NC_000001.9:g.15639608G>A NCBI36
NG_009253.1:g.7084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.165G>A MANE Select ENSP00000365116.4:p.Trp55Ter
ENST00000375943.6:c.41-1922G>A ENSP00000365110.2:n.41-1922G>A
ENST00000375949.4:c.165G>A ENSP00000365116.4:p.Trp55Ter
ENST00000476813.5:n.53-1922G>A
ENST00000483406.1:n.75G>A
NM_007272.2:c.165G>A NP_009203.2:p.Trp55Ter
XM_011540550.1:c.165G>A XP_011538852.1:p.Trp55Ter
NM_007272.3:c.165G>A MANE Select NP_009203.2:p.Trp55Ter
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