Canonical Allele Identifier: CA613448
Gene: CTRC HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.704T>G MANE Select ENSP00000365116.4:p.Val235Gly
ENST00000375943.6:c.*158T>G ENSP00000365110.2:n.*158T>G
ENST00000375949.4:c.704T>G ENSP00000365116.4:p.Val235Gly
ENST00000483406.1:n.468T>G
NM_007272.2:c.704T>G NP_009203.2:p.Val235Gly
XM_011540550.1:c.558T>G XP_011538852.1:p.Arg186=
NM_007272.3:c.704T>G MANE Select NP_009203.2:p.Val235Gly