Canonical Allele Identifier: CA10569561

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155524536C>T , CM000685.2:g.155524536C>T	GRCh38
NC_000023.10:g.154754197C>T , CM000685.1:g.154754197C>T	GRCh37
NC_000023.9:g.154407391C>T	NCBI36
NG_021318.1:g.93426G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.278G>A MANE Select	NP_060666.1:p.Arg93His
ENST00000334398.8:c.278G>A MANE Select	ENSP00000335261.3:p.Arg93His
NM_001184797.1:c.278G>A	NP_001171726.1:p.Arg93His
NM_001184797.2:c.278G>A	NP_001171726.1:p.Arg93His
NM_018196.3:c.278G>A	NP_060666.1:p.Arg93His
ENST00000334398.7:c.278G>A	ENSP00000335261.3:p.Arg93His
ENST00000369439.4:c.278G>A	ENSP00000358447.4:p.Arg93His
ENST00000487422.1:n.279G>A
ENST00000675642.1:c.311G>A	ENSP00000502604.1:p.Arg104His
XM_011531182.1:c.125G>A	XP_011529484.1:p.Arg42His
XM_011531182.3:c.125G>A	XP_011529484.1:p.Arg42His
XM_017029620.2:c.278G>A	XP_016885109.1:p.Arg93His
XR_247318.1:n.449G>A
XR_247318.3:n.423G>A