Canonical Allele Identifier: CA521458356

Gene: CTRC

Linked Data

• dbSNP Id: rs1231067362
• gnomAD v2: 1-15772087-T-C
• gnomAD v3: 1-15445592-T-C
• gnomAD v4: 1-15445592-T-C
• MyVariant Identifiers: chr1:g.15772087T>C (hg19) ; chr1:g.15445592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15445592T>C , CM000663.2:g.15445592T>C	GRCh38
NC_000001.10:g.15772087T>C , CM000663.1:g.15772087T>C	GRCh37
NC_000001.9:g.15644674T>C	NCBI36
NG_009253.1:g.12150T>C

Transcript Alleles

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