Canonical Allele Identifier: CA24519569

Gene: CTH

Linked Data

• dbSNP Id: rs894038611
• MyVariant Identifiers: chr1:g.70904801T>A (hg19) ; chr1:g.70439118T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1209T>A MANE Select	ENSP00000359976.3:p.Ser403Arg
ENST00000346806.2:c.1077T>A	ENSP00000311554.2:p.Ser359Arg
ENST00000370938.7:c.1209T>A	ENSP00000359976.3:p.Ser403Arg
ENST00000411986.6:c.1113T>A	ENSP00000413407.2:p.Ser371Arg
ENST00000482383.1:n.484T>A
NM_001190463.1:c.1113T>A	NP_001177392.1:p.Ser371Arg
NM_001902.5:c.1209T>A	NP_001893.2:p.Ser403Arg
NM_153742.4:c.1077T>A	NP_714964.2:p.Ser359Arg
XM_005270509.2:c.882T>A	XP_005270566.1:p.Ser294Arg
XM_011540787.1:c.639T>A	XP_011539089.1:p.Ser213Arg
XM_005270509.3:c.882T>A	XP_005270566.1:p.Ser294Arg
XM_017000416.2:c.639T>A	XP_016855905.1:p.Ser213Arg
NM_001902.6:c.1209T>A MANE Select	NP_001893.2:p.Ser403Arg
NM_001190463.2:c.1113T>A	NP_001177392.1:p.Ser371Arg
NM_153742.5:c.1077T>A	NP_714964.2:p.Ser359Arg