Canonical Allele Identifier: CA416207365
Gene: CTRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.15772136C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445641C>T , CM000663.2:g.15445641C>T GRCh38
NC_000001.10:g.15772136C>T , CM000663.1:g.15772136C>T GRCh37
NC_000001.9:g.15644723C>T NCBI36
NG_009253.1:g.12199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.684C>T MANE Select ENSP00000365116.4:p.Ser228=
ENST00000375943.6:c.*138C>T ENSP00000365110.2:n.*138C>T
ENST00000375949.4:c.684C>T ENSP00000365116.4:p.Ser228=
ENST00000483406.1:n.448C>T
NM_007272.2:c.684C>T NP_009203.2:p.Ser228=
XM_011540550.1:c.538C>T XP_011538852.1:p.Leu180=
NM_007272.3:c.684C>T MANE Select NP_009203.2:p.Ser228=