Canonical Allele Identifier: CA338567797
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1238186041
gnomAD v2: 1-15772150-G-T
gnomAD v4: 1-15445655-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445655G>T , CM000663.2:g.15445655G>T GRCh38
NC_000001.10:g.15772150G>T , CM000663.1:g.15772150G>T GRCh37
NC_000001.9:g.15644737G>T NCBI36
NG_009253.1:g.12213G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.698G>T MANE Select ENSP00000365116.4:p.Gly233Val
ENST00000375943.6:c.*152G>T ENSP00000365110.2:n.*152G>T
ENST00000375949.4:c.698G>T ENSP00000365116.4:p.Gly233Val
ENST00000483406.1:n.462G>T
NM_007272.2:c.698G>T NP_009203.2:p.Gly233Val
XM_011540550.1:c.552G>T XP_011538852.1:p.Trp184Cys
NM_007272.3:c.698G>T MANE Select NP_009203.2:p.Gly233Val