Canonical Allele Identifier: CA2467003792
Gene: TMLHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155505908C= , CM000685.2:g.155505908C= GRCh38
NC_000023.10:g.154735569C= , CM000685.1:g.154735569C= GRCh37
NC_000023.9:g.154388763C= NCBI36
NG_021318.1:g.112054G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+990G= MANE Select ENSP00000335261.3:n.995+990G=
ENST00000675642.1:c.1028+990G= ENSP00000502604.1:n.1028+990G=
ENST00000334398.7:c.995+990G= ENSP00000335261.3:n.995+990G=
ENST00000369439.4:c.995+990G= ENSP00000358447.4:n.995+990G=
NM_001184797.1:c.995+990G= NP_001171726.1:n.995+990G=
NM_018196.3:c.995+990G= NP_060666.1:n.995+990G=
XM_011531182.1:c.842+990G= XP_011529484.1:n.842+990G=
XR_247318.1:n.1166+990G=
XM_011531182.3:c.842+990G= XP_011529484.1:n.842+990G=
XR_247318.3:n.1140+990G=
NM_018196.4:c.995+990G= MANE Select NP_060666.1:n.995+990G=
NM_001184797.2:c.995+990G= NP_001171726.1:n.995+990G=