Canonical Allele Identifier: CA340839875

Gene: CTH

Linked Data

• MyVariant Identifiers: chr1:g.70904806G>A (hg19) ; chr1:g.70439123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439123G>A , CM000663.2:g.70439123G>A	GRCh38
NC_000001.10:g.70904806G>A , CM000663.1:g.70904806G>A	GRCh37
NC_000001.9:g.70677394G>A	NCBI36
NG_008041.1:g.32852G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1214G>A MANE Select	ENSP00000359976.3:p.Ser405Asn
ENST00000346806.2:c.1082G>A	ENSP00000311554.2:p.Ser361Asn
ENST00000370938.7:c.1214G>A	ENSP00000359976.3:p.Ser405Asn
ENST00000411986.6:c.1118G>A	ENSP00000413407.2:p.Ser373Asn
ENST00000482383.1:n.489G>A
NM_001190463.1:c.1118G>A	NP_001177392.1:p.Ser373Asn
NM_001902.5:c.1214G>A	NP_001893.2:p.Ser405Asn
NM_153742.4:c.1082G>A	NP_714964.2:p.Ser361Asn
XM_005270509.2:c.887G>A	XP_005270566.1:p.Ser296Asn
XM_011540787.1:c.644G>A	XP_011539089.1:p.Ser215Asn
XM_005270509.3:c.887G>A	XP_005270566.1:p.Ser296Asn
XM_017000416.2:c.644G>A	XP_016855905.1:p.Ser215Asn
NM_001902.6:c.1214G>A MANE Select	NP_001893.2:p.Ser405Asn
NM_001190463.2:c.1118G>A	NP_001177392.1:p.Ser373Asn
NM_153742.5:c.1082G>A	NP_714964.2:p.Ser361Asn