Canonical Allele Identifier: CA613457
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 827003
ClinVar RCV Id: RCV002416302
dbSNP Id: rs147925927
ExAC: 1:15772189 G / A
gnomAD v2: 1-15772189-G-A
gnomAD v3: 1-15445694-G-A
gnomAD v4: 1-15445694-G-A
MyVariant Identifiers: chr1:g.15772189G>A (hg19) chr1:g.15445694G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445694G>A , CM000663.2:g.15445694G>A GRCh38
NC_000001.10:g.15772189G>A , CM000663.1:g.15772189G>A GRCh37
NC_000001.9:g.15644776G>A NCBI36
NG_009253.1:g.12252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.737G>A MANE Select ENSP00000365116.4:p.Arg246His
ENST00000375943.6:c.*191G>A ENSP00000365110.2:n.*191G>A
ENST00000375949.4:c.737G>A ENSP00000365116.4:p.Arg246His
ENST00000483406.1:n.501G>A
NM_007272.2:c.737G>A NP_009203.2:p.Arg246His
XM_011540550.1:c.591G>A XP_011538852.1:p.Pro197=
NM_007272.3:c.737G>A MANE Select NP_009203.2:p.Arg246His
Search 100 bp 5'
Search 100 bp 3'