Canonical Allele Identifier: CA2512631249
Gene: CTH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70439135G>T , CM000663.2:g.70439135G>T GRCh38
NC_000001.10:g.70904818G>T , CM000663.1:g.70904818G>T GRCh37
NC_000001.9:g.70677406G>T NCBI36
NG_008041.1:g.32864G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370938.8:c.*8G>T MANE Select ENSP00000359976.3:n.*8G>T
ENST00000346806.2:c.*8G>T ENSP00000311554.2:n.*8G>T
ENST00000370938.7:c.*8G>T ENSP00000359976.3:n.*8G>T
ENST00000411986.6:c.*8G>T ENSP00000413407.2:n.*8G>T
ENST00000482383.1:n.501G>T
NM_001190463.1:c.*8G>T NP_001177392.1:n.*8G>T
NM_001902.5:c.*8G>T NP_001893.2:n.*8G>T
NM_153742.4:c.*8G>T NP_714964.2:n.*8G>T
XM_005270509.2:c.*8G>T XP_005270566.1:n.*8G>T
XM_011540787.1:c.*8G>T XP_011539089.1:n.*8G>T
XM_005270509.3:c.*8G>T XP_005270566.1:n.*8G>T
XM_017000416.2:c.*8G>T XP_016855905.1:n.*8G>T
NM_001902.6:c.*8G>T MANE Select NP_001893.2:n.*8G>T
NM_001190463.2:c.*8G>T NP_001177392.1:n.*8G>T
NM_153742.5:c.*8G>T NP_714964.2:n.*8G>T