Canonical Allele Identifier: CA340838534

Gene: CTH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70430388C>A , CM000663.2:g.70430388C>A	GRCh38
NC_000001.10:g.70896071C>A , CM000663.1:g.70896071C>A	GRCh37
NC_000001.9:g.70668659C>A	NCBI36
NG_008041.1:g.24117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.718C>A MANE Select	ENSP00000359976.3:p.Gln240Lys
ENST00000346806.2:c.586C>A	ENSP00000311554.2:p.Gln196Lys
ENST00000370938.7:c.718C>A	ENSP00000359976.3:p.Gln240Lys
ENST00000411986.6:c.622C>A	ENSP00000413407.2:p.Gln208Lys
ENST00000464926.1:n.766C>A
NM_001190463.1:c.622C>A	NP_001177392.1:p.Gln208Lys
NM_001902.5:c.718C>A	NP_001893.2:p.Gln240Lys
NM_153742.4:c.586C>A	NP_714964.2:p.Gln196Lys
XM_005270509.2:c.391C>A	XP_005270566.1:p.Gln131Lys
XM_011540787.1:c.148C>A	XP_011539089.1:p.Gln50Lys
XM_005270509.3:c.391C>A	XP_005270566.1:p.Gln131Lys
XM_017000416.2:c.148C>A	XP_016855905.1:p.Gln50Lys
NM_001902.6:c.718C>A MANE Select	NP_001893.2:p.Gln240Lys
NM_001190463.2:c.622C>A	NP_001177392.1:p.Gln208Lys
NM_153742.5:c.586C>A	NP_714964.2:p.Gln196Lys