Canonical Allele Identifier: CA18254058
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs111511942
gnomAD v3: 1-15445917-G-T
gnomAD v4: 1-15445917-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445917G>T , CM000663.2:g.15445917G>T GRCh38
NC_000001.10:g.15772412G>T , CM000663.1:g.15772412G>T GRCh37
NC_000001.9:g.15644999G>T NCBI36
NG_009253.1:g.12475G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+168G>T MANE Select ENSP00000365116.4:n.792+168G>T
ENST00000375943.6:c.*246+168G>T ENSP00000365110.2:n.*246+168G>T
ENST00000375949.4:c.792+168G>T ENSP00000365116.4:n.792+168G>T
ENST00000483406.1:n.556+168G>T
NM_007272.2:c.792+168G>T NP_009203.2:n.792+168G>T
XM_011540550.1:c.646+168G>T XP_011538852.1:n.646+168G>T
NM_007272.3:c.792+168G>T MANE Select NP_009203.2:n.792+168G>T