Canonical Allele Identifier: CA338567726
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1754839
ClinVar RCV Id: RCV002367001
gnomAD v4: 1-15445624-C-G
MyVariant Identifiers: chr1:g.15772119C>G (hg19) chr1:g.15445624C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445624C>G , CM000663.2:g.15445624C>G GRCh38
NC_000001.10:g.15772119C>G , CM000663.1:g.15772119C>G GRCh37
NC_000001.9:g.15644706C>G NCBI36
NG_009253.1:g.12182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.667C>G MANE Select ENSP00000365116.4:p.Gln223Glu
ENST00000375943.6:c.*121C>G ENSP00000365110.2:n.*121C>G
ENST00000375949.4:c.667C>G ENSP00000365116.4:p.Gln223Glu
ENST00000483406.1:n.431C>G
NM_007272.2:c.667C>G NP_009203.2:p.Gln223Glu
XM_011540550.1:c.521C>G XP_011538852.1:p.Pro174Arg
NM_007272.3:c.667C>G MANE Select NP_009203.2:p.Gln223Glu
Search 100 bp 5'
Search 100 bp 3'