Canonical Allele Identifier: CA2580061174
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 2079845
ClinVar RCV Id: RCV002982958
gnomAD v4: 1-15445768-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445768G>A , CM000663.2:g.15445768G>A GRCh38
NC_000001.10:g.15772263G>A , CM000663.1:g.15772263G>A GRCh37
NC_000001.9:g.15644850G>A NCBI36
NG_009253.1:g.12326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+19G>A MANE Select ENSP00000365116.4:n.792+19G>A
ENST00000375943.6:c.*246+19G>A ENSP00000365110.2:n.*246+19G>A
ENST00000375949.4:c.792+19G>A ENSP00000365116.4:n.792+19G>A
ENST00000483406.1:n.556+19G>A
NM_007272.2:c.792+19G>A NP_009203.2:n.792+19G>A
XM_011540550.1:c.646+19G>A XP_011538852.1:n.646+19G>A
NM_007272.3:c.792+19G>A MANE Select NP_009203.2:n.792+19G>A
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