Canonical Allele Identifier: CA613183

Gene: CTRC

Linked Data

• ClinVar Variation Id: 416445
• ClinVar RCV Id: RCV001286407 ; RCV003237879
• dbSNP Id: rs374821228
• ExAC: 1:15764987 G / A
• gnomAD v2: 1-15764987-G-A
• gnomAD v3: 1-15438491-G-A
• gnomAD v4: 1-15438491-G-A
• COSMIC: COSM897554
• MyVariant Identifiers: chr1:g.15764987G>A (hg19) ; chr1:g.15438491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15438491G>A , CM000663.2:g.15438491G>A	GRCh38
NC_000001.10:g.15764987G>A , CM000663.1:g.15764987G>A	GRCh37
NC_000001.9:g.15637574G>A	NCBI36
NG_009253.1:g.5050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.27G>A MANE Select	ENSP00000365116.4:p.Ala9=
ENST00000375943.6:c.27G>A	ENSP00000365110.2:p.Ala9=
ENST00000375949.4:c.27G>A	ENSP00000365116.4:p.Ala9=
ENST00000476813.5:n.39G>A
NM_007272.2:c.27G>A	NP_009203.2:p.Ala9=
XM_011540550.1:c.27G>A	XP_011538852.1:p.Ala9=
NM_007272.3:c.27G>A MANE Select	NP_009203.2:p.Ala9=