Canonical Allele Identifier: CA889587582
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1383087814
gnomAD v3: 1-15445780-C-T
gnomAD v4: 1-15445780-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445780C>T , CM000663.2:g.15445780C>T GRCh38
NC_000001.10:g.15772275C>T , CM000663.1:g.15772275C>T GRCh37
NC_000001.9:g.15644862C>T NCBI36
NG_009253.1:g.12338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+31C>T MANE Select ENSP00000365116.4:n.792+31C>T
ENST00000375943.6:c.*246+31C>T ENSP00000365110.2:n.*246+31C>T
ENST00000375949.4:c.792+31C>T ENSP00000365116.4:n.792+31C>T
ENST00000483406.1:n.556+31C>T
NM_007272.2:c.792+31C>T NP_009203.2:n.792+31C>T
XM_011540550.1:c.646+31C>T XP_011538852.1:n.646+31C>T
NM_007272.3:c.792+31C>T MANE Select NP_009203.2:n.792+31C>T