Canonical Allele Identifier: CA418367153

Gene: CTH

Linked Data

• MyVariant Identifiers: chr1:g.70904801T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439118T>C , CM000663.2:g.70439118T>C	GRCh38
NC_000001.10:g.70904801T>C , CM000663.1:g.70904801T>C	GRCh37
NC_000001.9:g.70677389T>C	NCBI36
NG_008041.1:g.32847T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1209T>C MANE Select	ENSP00000359976.3:p.Ser403=
ENST00000346806.2:c.1077T>C	ENSP00000311554.2:p.Ser359=
ENST00000370938.7:c.1209T>C	ENSP00000359976.3:p.Ser403=
ENST00000411986.6:c.1113T>C	ENSP00000413407.2:p.Ser371=
ENST00000482383.1:n.484T>C
NM_001190463.1:c.1113T>C	NP_001177392.1:p.Ser371=
NM_001902.5:c.1209T>C	NP_001893.2:p.Ser403=
NM_153742.4:c.1077T>C	NP_714964.2:p.Ser359=
XM_005270509.2:c.882T>C	XP_005270566.1:p.Ser294=
XM_011540787.1:c.639T>C	XP_011539089.1:p.Ser213=
XM_005270509.3:c.882T>C	XP_005270566.1:p.Ser294=
XM_017000416.2:c.639T>C	XP_016855905.1:p.Ser213=
NM_001902.6:c.1209T>C MANE Select	NP_001893.2:p.Ser403=
NM_001190463.2:c.1113T>C	NP_001177392.1:p.Ser371=
NM_153742.5:c.1077T>C	NP_714964.2:p.Ser359=