Canonical Allele Identifier: CA613432
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 439575
dbSNP Id: rs183053579
gnomAD v2: 1-15772080-G-A
gnomAD v3: 1-15445585-G-A
gnomAD v4: 1-15445585-G-A

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