Canonical Allele Identifier: CA2467003844
Gene: TMLHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155506085T= , CM000685.2:g.155506085T= GRCh38
NC_000023.10:g.154735746T= , CM000685.1:g.154735746T= GRCh37
NC_000023.9:g.154388940T= NCBI36
NG_021318.1:g.111877A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+813A= MANE Select ENSP00000335261.3:n.995+813A=
ENST00000675642.1:c.1028+813A= ENSP00000502604.1:n.1028+813A=
ENST00000334398.7:c.995+813A= ENSP00000335261.3:n.995+813A=
ENST00000369439.4:c.995+813A= ENSP00000358447.4:n.995+813A=
NM_001184797.1:c.995+813A= NP_001171726.1:n.995+813A=
NM_018196.3:c.995+813A= NP_060666.1:n.995+813A=
XM_011531182.1:c.842+813A= XP_011529484.1:n.842+813A=
XR_247318.1:n.1166+813A=
XM_011531182.3:c.842+813A= XP_011529484.1:n.842+813A=
XR_247318.3:n.1140+813A=
NM_018196.4:c.995+813A= MANE Select NP_060666.1:n.995+813A=
NM_001184797.2:c.995+813A= NP_001171726.1:n.995+813A=