Canonical Allele Identifier: CA613186

Gene: CTRC

Linked Data

• ClinVar Variation Id: 410882
• ClinVar RCV Id: RCV000463215
• dbSNP Id: rs747431847
• ExAC: 1:15764999 T / C
• gnomAD v2: 1-15764999-T-C
• gnomAD v3: 1-15438503-T-C
• gnomAD v4: 1-15438503-T-C
• MyVariant Identifiers: chr1:g.15764999T>C (hg19) ; chr1:g.15438503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15438503T>C , CM000663.2:g.15438503T>C	GRCh38
NC_000001.10:g.15764999T>C , CM000663.1:g.15764999T>C	GRCh37
NC_000001.9:g.15637586T>C	NCBI36
NG_009253.1:g.5062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.39T>C MANE Select	ENSP00000365116.4:p.Cys13=
ENST00000375943.6:c.39T>C	ENSP00000365110.2:p.Cys13=
ENST00000375949.4:c.39T>C	ENSP00000365116.4:p.Cys13=
ENST00000476813.5:n.51T>C
NM_007272.2:c.39T>C	NP_009203.2:p.Cys13=
XM_011540550.1:c.39T>C	XP_011538852.1:p.Cys13=
NM_007272.3:c.39T>C MANE Select	NP_009203.2:p.Cys13=