Canonical Allele Identifier: CA2646204273
Gene: CTH HGNC NCBI

Linked Data

gnomAD v4: 1-70439128-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.70439128T>G , CM000663.2:g.70439128T>G GRCh38
NC_000001.10:g.70904811T>G , CM000663.1:g.70904811T>G GRCh37
NC_000001.9:g.70677399T>G NCBI36
NG_008041.1:g.32857T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370938.8:c.*1T>G MANE Select ENSP00000359976.3:n.*1T>G
ENST00000346806.2:c.*1T>G ENSP00000311554.2:n.*1T>G
ENST00000370938.7:c.*1T>G ENSP00000359976.3:n.*1T>G
ENST00000411986.6:c.*1T>G ENSP00000413407.2:n.*1T>G
ENST00000482383.1:n.494T>G
NM_001190463.1:c.*1T>G NP_001177392.1:n.*1T>G
NM_001902.5:c.*1T>G NP_001893.2:n.*1T>G
NM_153742.4:c.*1T>G NP_714964.2:n.*1T>G
XM_005270509.2:c.*1T>G XP_005270566.1:n.*1T>G
XM_011540787.1:c.*1T>G XP_011539089.1:n.*1T>G
XM_005270509.3:c.*1T>G XP_005270566.1:n.*1T>G
XM_017000416.2:c.*1T>G XP_016855905.1:n.*1T>G
NM_001902.6:c.*1T>G MANE Select NP_001893.2:n.*1T>G
NM_001190463.2:c.*1T>G NP_001177392.1:n.*1T>G
NM_153742.5:c.*1T>G NP_714964.2:n.*1T>G