Canonical Allele Identifier: CA416207433
Gene: CTRC HGNC NCBI

Linked Data

ClinVar Variation Id: 827179
ClinVar RCV Id: RCV002427464
dbSNP Id: rs1570786781
gnomAD v4: 1-15445722-G-A
MyVariant Identifiers: chr1:g.15772217G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445722G>A , CM000663.2:g.15445722G>A GRCh38
NC_000001.10:g.15772217G>A , CM000663.1:g.15772217G>A GRCh37
NC_000001.9:g.15644804G>A NCBI36
NG_009253.1:g.12280G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.765G>A MANE Select ENSP00000365116.4:p.Val255=
ENST00000375943.6:c.*219G>A ENSP00000365110.2:n.*219G>A
ENST00000375949.4:c.765G>A ENSP00000365116.4:p.Val255=
ENST00000483406.1:n.529G>A
NM_007272.2:c.765G>A NP_009203.2:p.Val255=
XM_011540550.1:c.619G>A XP_011538852.1:p.Val207Ile
NM_007272.3:c.765G>A MANE Select NP_009203.2:p.Val255=
Search 100 bp 5'
Search 100 bp 3'