Canonical Allele Identifier: CA416207377
Gene: CTRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.15772163T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445668T>C , CM000663.2:g.15445668T>C GRCh38
NC_000001.10:g.15772163T>C , CM000663.1:g.15772163T>C GRCh37
NC_000001.9:g.15644750T>C NCBI36
NG_009253.1:g.12226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.711T>C MANE Select ENSP00000365116.4:p.Phe237=
ENST00000375943.6:c.*165T>C ENSP00000365110.2:n.*165T>C
ENST00000375949.4:c.711T>C ENSP00000365116.4:p.Phe237=
ENST00000483406.1:n.475T>C
NM_007272.2:c.711T>C NP_009203.2:p.Phe237=
XM_011540550.1:c.565T>C XP_011538852.1:p.Trp189Arg
NM_007272.3:c.711T>C MANE Select NP_009203.2:p.Phe237=