Canonical Allele Identifier: CA418367155
Gene: CTH HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.70904807C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70439124C>T , CM000663.2:g.70439124C>T GRCh38
NC_000001.10:g.70904807C>T , CM000663.1:g.70904807C>T GRCh37
NC_000001.9:g.70677395C>T NCBI36
NG_008041.1:g.32853C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370938.8:c.1215C>T MANE Select ENSP00000359976.3:p.Ser405=
ENST00000346806.2:c.1083C>T ENSP00000311554.2:p.Ser361=
ENST00000370938.7:c.1215C>T ENSP00000359976.3:p.Ser405=
ENST00000411986.6:c.1119C>T ENSP00000413407.2:p.Ser373=
ENST00000482383.1:n.490C>T
NM_001190463.1:c.1119C>T NP_001177392.1:p.Ser373=
NM_001902.5:c.1215C>T NP_001893.2:p.Ser405=
NM_153742.4:c.1083C>T NP_714964.2:p.Ser361=
XM_005270509.2:c.888C>T XP_005270566.1:p.Ser296=
XM_011540787.1:c.645C>T XP_011539089.1:p.Ser215=
XM_005270509.3:c.888C>T XP_005270566.1:p.Ser296=
XM_017000416.2:c.645C>T XP_016855905.1:p.Ser215=
NM_001902.6:c.1215C>T MANE Select NP_001893.2:p.Ser405=
NM_001190463.2:c.1119C>T NP_001177392.1:p.Ser373=
NM_153742.5:c.1083C>T NP_714964.2:p.Ser361=