Canonical Allele Identifier: CA340838709

Gene: CTH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70432151C>G , CM000663.2:g.70432151C>G	GRCh38
NC_000001.10:g.70897834C>G , CM000663.1:g.70897834C>G	GRCh37
NC_000001.9:g.70670422C>G	NCBI36
NG_008041.1:g.25880C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001902.6:c.793C>G MANE Select	NP_001893.2:p.Arg265Gly
ENST00000370938.8:c.793C>G MANE Select	ENSP00000359976.3:p.Arg265Gly
NM_001190463.1:c.697C>G	NP_001177392.1:p.Arg233Gly
NM_001190463.2:c.697C>G	NP_001177392.1:p.Arg233Gly
NM_001902.5:c.793C>G	NP_001893.2:p.Arg265Gly
NM_153742.4:c.661C>G	NP_714964.2:p.Arg221Gly
NM_153742.5:c.661C>G	NP_714964.2:p.Arg221Gly
ENST00000346806.2:c.661C>G	ENSP00000311554.2:p.Arg221Gly
ENST00000370938.7:c.793C>G	ENSP00000359976.3:p.Arg265Gly
ENST00000411986.6:c.697C>G	ENSP00000413407.2:p.Arg233Gly
XM_005270509.2:c.466C>G	XP_005270566.1:p.Arg156Gly
XM_005270509.3:c.466C>G	XP_005270566.1:p.Arg156Gly
XM_011540787.1:c.223C>G	XP_011539089.1:p.Arg75Gly
XM_017000416.2:c.223C>G	XP_016855905.1:p.Arg75Gly