Canonical Allele Identifier: CA2824331716

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505875G>A , CM000685.2:g.155505875G>A	GRCh38
NC_000023.10:g.154735536G>A , CM000685.1:g.154735536G>A	GRCh37
NC_000023.9:g.154388730G>A	NCBI36
NG_021318.1:g.112087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+1023C>T MANE Select	ENSP00000335261.3:n.995+1023C>T
ENST00000675642.1:c.1028+1023C>T	ENSP00000502604.1:n.1028+1023C>T
ENST00000334398.7:c.995+1023C>T	ENSP00000335261.3:n.995+1023C>T
ENST00000369439.4:c.995+1023C>T	ENSP00000358447.4:n.995+1023C>T
NM_001184797.1:c.995+1023C>T	NP_001171726.1:n.995+1023C>T
NM_018196.3:c.995+1023C>T	NP_060666.1:n.995+1023C>T
XM_011531182.1:c.842+1023C>T	XP_011529484.1:n.842+1023C>T
XR_247318.1:n.1166+1023C>T
XM_011531182.3:c.842+1023C>T	XP_011529484.1:n.842+1023C>T
XR_247318.3:n.1140+1023C>T
NM_018196.4:c.995+1023C>T MANE Select	NP_060666.1:n.995+1023C>T
NM_001184797.2:c.995+1023C>T	NP_001171726.1:n.995+1023C>T