Canonical Allele Identifier: CA613250
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs757098417
ExAC: 1:15767032 G / A
gnomAD v2: 1-15767032-G-A
gnomAD v4: 1-15440536-G-A
MyVariant Identifiers: chr1:g.15767032G>A (hg19) chr1:g.15440536G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15440536G>A , CM000663.2:g.15440536G>A GRCh38
NC_000001.10:g.15767032G>A , CM000663.1:g.15767032G>A GRCh37
NC_000001.9:g.15639619G>A NCBI36
NG_009253.1:g.7095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.176G>A MANE Select ENSP00000365116.4:p.Cys59Tyr
ENST00000375943.6:c.41-1911G>A ENSP00000365110.2:n.41-1911G>A
ENST00000375949.4:c.176G>A ENSP00000365116.4:p.Cys59Tyr
ENST00000476813.5:n.53-1911G>A
ENST00000483406.1:n.86G>A
NM_007272.2:c.176G>A NP_009203.2:p.Cys59Tyr
XM_011540550.1:c.176G>A XP_011538852.1:p.Cys59Tyr
NM_007272.3:c.176G>A MANE Select NP_009203.2:p.Cys59Tyr
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