Canonical Allele Identifier: CA338567807
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs772523751
gnomAD v2: 1-15772156-T-A
gnomAD v4: 1-15445661-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445661T>A , CM000663.2:g.15445661T>A GRCh38
NC_000001.10:g.15772156T>A , CM000663.1:g.15772156T>A GRCh37
NC_000001.9:g.15644743T>A NCBI36
NG_009253.1:g.12219T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.704T>A MANE Select ENSP00000365116.4:p.Val235Asp
ENST00000375943.6:c.*158T>A ENSP00000365110.2:n.*158T>A
ENST00000375949.4:c.704T>A ENSP00000365116.4:p.Val235Asp
ENST00000483406.1:n.468T>A
NM_007272.2:c.704T>A NP_009203.2:p.Val235Asp
XM_011540550.1:c.558T>A XP_011538852.1:p.Arg186=
NM_007272.3:c.704T>A MANE Select NP_009203.2:p.Val235Asp