Canonical Allele Identifier: CA416207420
Gene: CTRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.15772205C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445710C>T , CM000663.2:g.15445710C>T GRCh38
NC_000001.10:g.15772205C>T , CM000663.1:g.15772205C>T GRCh37
NC_000001.9:g.15644792C>T NCBI36
NG_009253.1:g.12268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.753C>T MANE Select ENSP00000365116.4:p.Val251=
ENST00000375943.6:c.*207C>T ENSP00000365110.2:n.*207C>T
ENST00000375949.4:c.753C>T ENSP00000365116.4:p.Val251=
ENST00000483406.1:n.517C>T
NM_007272.2:c.753C>T NP_009203.2:p.Val251=
XM_011540550.1:c.607C>T XP_011538852.1:p.Leu203=
NM_007272.3:c.753C>T MANE Select NP_009203.2:p.Val251=