Canonical Allele Identifier: CA2824331719

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155506064C>A , CM000685.2:g.155506064C>A	GRCh38
NC_000023.10:g.154735725C>A , CM000685.1:g.154735725C>A	GRCh37
NC_000023.9:g.154388919C>A	NCBI36
NG_021318.1:g.111898G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000334398.8:c.995+834G>T MANE Select	ENSP00000335261.3:n.995+834G>T
ENST00000675642.1:c.1028+834G>T	ENSP00000502604.1:n.1028+834G>T
ENST00000334398.7:c.995+834G>T	ENSP00000335261.3:n.995+834G>T
ENST00000369439.4:c.995+834G>T	ENSP00000358447.4:n.995+834G>T
NM_001184797.1:c.995+834G>T	NP_001171726.1:n.995+834G>T
NM_018196.3:c.995+834G>T	NP_060666.1:n.995+834G>T
XM_011531182.1:c.842+834G>T	XP_011529484.1:n.842+834G>T
XR_247318.1:n.1166+834G>T
XM_011531182.3:c.842+834G>T	XP_011529484.1:n.842+834G>T
XR_247318.3:n.1140+834G>T
NM_018196.4:c.995+834G>T MANE Select	NP_060666.1:n.995+834G>T
NM_001184797.2:c.995+834G>T	NP_001171726.1:n.995+834G>T