Canonical Allele Identifier: CA613465
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs748753747
ExAC: 1:15772214 G / T
gnomAD v2: 1-15772214-G-T
gnomAD v4: 1-15445719-G-T
MyVariant Identifiers: chr1:g.15772214G>T (hg19) chr1:g.15445719G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445719G>T , CM000663.2:g.15445719G>T GRCh38
NC_000001.10:g.15772214G>T , CM000663.1:g.15772214G>T GRCh37
NC_000001.9:g.15644801G>T NCBI36
NG_009253.1:g.12277G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.762G>T MANE Select ENSP00000365116.4:p.Arg254=
ENST00000375943.6:c.*216G>T ENSP00000365110.2:n.*216G>T
ENST00000375949.4:c.762G>T ENSP00000365116.4:p.Arg254=
ENST00000483406.1:n.526G>T
NM_007272.2:c.762G>T NP_009203.2:p.Arg254=
XM_011540550.1:c.616G>T XP_011538852.1:p.Gly206Cys
NM_007272.3:c.762G>T MANE Select NP_009203.2:p.Arg254=
Search 100 bp 5'
Search 100 bp 3'