Canonical Allele Identifier: CA521458359
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1301778392
gnomAD v2: 1-15772254-G-C
gnomAD v4: 1-15445759-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445759G>C , CM000663.2:g.15445759G>C GRCh38
NC_000001.10:g.15772254G>C , CM000663.1:g.15772254G>C GRCh37
NC_000001.9:g.15644841G>C NCBI36
NG_009253.1:g.12317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+10G>C MANE Select ENSP00000365116.4:n.792+10G>C
ENST00000375943.6:c.*246+10G>C ENSP00000365110.2:n.*246+10G>C
ENST00000375949.4:c.792+10G>C ENSP00000365116.4:n.792+10G>C
ENST00000483406.1:n.556+10G>C
NM_007272.2:c.792+10G>C NP_009203.2:n.792+10G>C
XM_011540550.1:c.646+10G>C XP_011538852.1:n.646+10G>C
NM_007272.3:c.792+10G>C MANE Select NP_009203.2:n.792+10G>C