Canonical Allele Identifier: CA613439
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 240766
ClinVar RCV Id: RCV001000068 RCV002277591
dbSNP Id: rs201486613
ExAC: 1:15772126 A / C
gnomAD v2: 1-15772126-A-C
gnomAD v3: 1-15445631-A-C
gnomAD v4: 1-15445631-A-C
MyVariant Identifiers: chr1:g.15772126A>C (hg19) chr1:g.15445631A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445631A>C , CM000663.2:g.15445631A>C GRCh38
NC_000001.10:g.15772126A>C , CM000663.1:g.15772126A>C GRCh37
NC_000001.9:g.15644713A>C NCBI36
NG_009253.1:g.12189A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.674A>C MANE Select ENSP00000365116.4:p.Glu225Ala
ENST00000375943.6:c.*128A>C ENSP00000365110.2:n.*128A>C
ENST00000375949.4:c.674A>C ENSP00000365116.4:p.Glu225Ala
ENST00000483406.1:n.438A>C
NM_007272.2:c.674A>C NP_009203.2:p.Glu225Ala
XM_011540550.1:c.528A>C XP_011538852.1:p.Gly176=
NM_007272.3:c.674A>C MANE Select NP_009203.2:p.Glu225Ala
Search 100 bp 5'
Search 100 bp 3'