Canonical Allele Identifier: CA416207353
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 2014251
ClinVar RCV Id: RCV002829945
MyVariant Identifiers: chr1:g.15772112G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445617G>A , CM000663.2:g.15445617G>A GRCh38
NC_000001.10:g.15772112G>A , CM000663.1:g.15772112G>A GRCh37
NC_000001.9:g.15644699G>A NCBI36
NG_009253.1:g.12175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.660G>A MANE Select ENSP00000365116.4:p.Leu220=
ENST00000375943.6:c.*114G>A ENSP00000365110.2:n.*114G>A
ENST00000375949.4:c.660G>A ENSP00000365116.4:p.Leu220=
ENST00000483406.1:n.424G>A
NM_007272.2:c.660G>A NP_009203.2:p.Leu220=
XM_011540550.1:c.514G>A XP_011538852.1:p.Glu172Lys
NM_007272.3:c.660G>A MANE Select NP_009203.2:p.Leu220=
Search 100 bp 5'
Search 100 bp 3'