Canonical Allele Identifier: CA2510493923
Gene: TMLHE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155506059C>T , CM000685.2:g.155506059C>T GRCh38
NC_000023.10:g.154735720C>T , CM000685.1:g.154735720C>T GRCh37
NC_000023.9:g.154388914C>T NCBI36
NG_021318.1:g.111903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+839G>A MANE Select ENSP00000335261.3:n.995+839G>A
ENST00000675642.1:c.1028+839G>A ENSP00000502604.1:n.1028+839G>A
ENST00000334398.7:c.995+839G>A ENSP00000335261.3:n.995+839G>A
ENST00000369439.4:c.995+839G>A ENSP00000358447.4:n.995+839G>A
NM_001184797.1:c.995+839G>A NP_001171726.1:n.995+839G>A
NM_018196.3:c.995+839G>A NP_060666.1:n.995+839G>A
XM_011531182.1:c.842+839G>A XP_011529484.1:n.842+839G>A
XR_247318.1:n.1166+839G>A
XM_011531182.3:c.842+839G>A XP_011529484.1:n.842+839G>A
XR_247318.3:n.1140+839G>A
NM_018196.4:c.995+839G>A MANE Select NP_060666.1:n.995+839G>A
NM_001184797.2:c.995+839G>A NP_001171726.1:n.995+839G>A
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