Canonical Allele Identifier: CA613442
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs142027137
ExAC: 1:15772132 G / A
gnomAD v2: 1-15772132-G-A
COSMIC: COSM3475816
MyVariant Identifiers: chr1:g.15772132G>A (hg19) chr1:g.15445637G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445637G>A , CM000663.2:g.15445637G>A GRCh38
NC_000001.10:g.15772132G>A , CM000663.1:g.15772132G>A GRCh37
NC_000001.9:g.15644719G>A NCBI36
NG_009253.1:g.12195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.680G>A MANE Select ENSP00000365116.4:p.Gly227Asp
ENST00000375943.6:c.*134G>A ENSP00000365110.2:n.*134G>A
ENST00000375949.4:c.680G>A ENSP00000365116.4:p.Gly227Asp
ENST00000483406.1:n.444G>A
NM_007272.2:c.680G>A NP_009203.2:p.Gly227Asp
XM_011540550.1:c.534G>A XP_011538852.1:p.Arg178=
NM_007272.3:c.680G>A MANE Select NP_009203.2:p.Gly227Asp
Search 100 bp 5'
Search 100 bp 3'