Canonical Allele Identifier: CA358669

Gene: TMLHE TMLHE-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155492384C>A , CM000685.2:g.155492384C>A	GRCh38
NC_000023.10:g.154722045C>A , CM000685.1:g.154722045C>A	GRCh37
NC_000023.9:g.154375239C>A	NCBI36
NG_021318.1:g.125578G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.1107G>T (TMLHE) MANE Select	NP_060666.1:p.Glu369Asp
ENST00000334398.8:c.1107G>T (TMLHE) MANE Select	ENSP00000335261.3:p.Glu369Asp
NM_018196.3:c.1107G>T (TMLHE)	NP_060666.1:p.Glu369Asp
NR_039991.1:n.472-496C>A (TMLHE-AS1)
ENST00000334398.7:c.1107G>T (TMLHE)	ENSP00000335261.3:p.Glu369Asp
ENST00000449645.2:n.106G>T (TMLHE)
ENST00000675642.1:c.1140G>T (TMLHE)	ENSP00000502604.1:p.Glu380Asp
XM_011531182.1:c.954G>T (TMLHE)	XP_011529484.1:p.Glu318Asp
XM_011531182.3:c.954G>T (TMLHE)	XP_011529484.1:p.Glu318Asp
XR_247318.1:n.1278G>T (TMLHE)
XR_247318.3:n.1252G>T (TMLHE)