Canonical Allele Identifier: CA613432

Gene: CTRC

Linked Data

• ClinVar Variation Id: 439575
• ClinVar RCV Id: RCV000507043 ; RCV002248742
• dbSNP Id: rs183053579
• ExAC: 1:15772080 G / A
• gnomAD v2: 1-15772080-G-A
• gnomAD v3: 1-15445585-G-A
• gnomAD v4: 1-15445585-G-A
• MyVariant Identifiers: chr1:g.15772080G>A (hg19) ; chr1:g.15445585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445585G>A , CM000663.2:g.15445585G>A	GRCh38
NC_000001.10:g.15772080G>A , CM000663.1:g.15772080G>A	GRCh37
NC_000001.9:g.15644667G>A	NCBI36
NG_009253.1:g.12143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375949.5:c.640-12G>A MANE Select	ENSP00000365116.4:n.640-12G>A
ENST00000375943.6:c.*94-12G>A	ENSP00000365110.2:n.*94-12G>A
ENST00000375949.4:c.640-12G>A	ENSP00000365116.4:n.640-12G>A
ENST00000483406.1:n.404-12G>A
NM_007272.2:c.640-12G>A	NP_009203.2:n.640-12G>A
XM_011540550.1:c.494-12G>A	XP_011538852.1:n.494-12G>A
NM_007272.3:c.640-12G>A MANE Select	NP_009203.2:n.640-12G>A