Canonical Allele Identifier: CA414938045

Gene: TMLHE TMLHE-AS1

Genomic Alleles

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

Transcript Alleles

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