Canonical Allele Identifier: CA906109
Gene: CTH HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70415987C>A , CM000663.2:g.70415987C>A GRCh38
NC_000001.10:g.70881670C>A , CM000663.1:g.70881670C>A GRCh37
NC_000001.9:g.70654258C>A NCBI36
NG_008041.1:g.9716C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370938.8:c.200C>A MANE Select ENSP00000359976.3:p.Thr67Asn
ENST00000346806.2:c.200C>A ENSP00000311554.2:p.Thr67Asn
ENST00000370938.7:c.200C>A ENSP00000359976.3:p.Thr67Asn
ENST00000411986.6:c.200C>A ENSP00000413407.2:p.Thr67Asn
ENST00000464926.1:n.344C>A
NM_001190463.1:c.200C>A NP_001177392.1:p.Thr67Asn
NM_001902.5:c.200C>A NP_001893.2:p.Thr67Asn
NM_153742.4:c.200C>A NP_714964.2:p.Thr67Asn
XM_005270509.2:c.-128C>A XP_005270566.1:n.-128C>A
XM_005270509.3:c.-128C>A XP_005270566.1:n.-128C>A
NM_001902.6:c.200C>A MANE Select NP_001893.2:p.Thr67Asn
NM_001190463.2:c.200C>A NP_001177392.1:p.Thr67Asn
NM_153742.5:c.200C>A NP_714964.2:p.Thr67Asn