Canonical Allele Identifier: CA340839861
Gene: CTH HGNC NCBI
dbSNP:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70439117G>A , CM000663.2:g.70439117G>A GRCh38
NC_000001.10:g.70904800G>A , CM000663.1:g.70904800G>A GRCh37
NC_000001.9:g.70677388G>A NCBI36
NG_008041.1:g.32846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370938.8:c.1208G>A MANE Select ENSP00000359976.3:p.Ser403Asn
ENST00000346806.2:c.1076G>A ENSP00000311554.2:p.Ser359Asn
ENST00000370938.7:c.1208G>A ENSP00000359976.3:p.Ser403Asn
ENST00000411986.6:c.1112G>A ENSP00000413407.2:p.Ser371Asn
ENST00000482383.1:n.483G>A
NM_001190463.1:c.1112G>A NP_001177392.1:p.Ser371Asn
NM_001902.5:c.1208G>A NP_001893.2:p.Ser403Asn
NM_153742.4:c.1076G>A NP_714964.2:p.Ser359Asn
XM_005270509.2:c.881G>A XP_005270566.1:p.Ser294Asn
XM_011540787.1:c.638G>A XP_011539089.1:p.Ser213Asn
XM_005270509.3:c.881G>A XP_005270566.1:p.Ser294Asn
XM_017000416.2:c.638G>A XP_016855905.1:p.Ser213Asn
NM_001902.6:c.1208G>A MANE Select NP_001893.2:p.Ser403Asn
NM_001190463.2:c.1112G>A NP_001177392.1:p.Ser371Asn
NM_153742.5:c.1076G>A NP_714964.2:p.Ser359Asn