Canonical Allele Identifier: CA2467003814
Gene: TMLHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155505957A= , CM000685.2:g.155505957A= GRCh38
NC_000023.10:g.154735618A= , CM000685.1:g.154735618A= GRCh37
NC_000023.9:g.154388812A= NCBI36
NG_021318.1:g.112005T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+941T= MANE Select ENSP00000335261.3:n.995+941T=
ENST00000675642.1:c.1028+941T= ENSP00000502604.1:n.1028+941T=
ENST00000334398.7:c.995+941T= ENSP00000335261.3:n.995+941T=
ENST00000369439.4:c.995+941T= ENSP00000358447.4:n.995+941T=
NM_001184797.1:c.995+941T= NP_001171726.1:n.995+941T=
NM_018196.3:c.995+941T= NP_060666.1:n.995+941T=
XM_011531182.1:c.842+941T= XP_011529484.1:n.842+941T=
XR_247318.1:n.1166+941T=
XM_011531182.3:c.842+941T= XP_011529484.1:n.842+941T=
XR_247318.3:n.1140+941T=
NM_018196.4:c.995+941T= MANE Select NP_060666.1:n.995+941T=
NM_001184797.2:c.995+941T= NP_001171726.1:n.995+941T=