Canonical Allele Identifier: CA358894

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155511701C>G , CM000685.2:g.155511701C>G	GRCh38
NC_000023.10:g.154741362C>G , CM000685.1:g.154741362C>G	GRCh37
NC_000023.9:g.154394556C>G	NCBI36
NG_021318.1:g.106261G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.730G>C MANE Select	NP_060666.1:p.Asp244His
ENST00000334398.8:c.730G>C MANE Select	ENSP00000335261.3:p.Asp244His
NM_001184797.1:c.730G>C	NP_001171726.1:p.Asp244His
NM_001184797.2:c.730G>C	NP_001171726.1:p.Asp244His
NM_018196.3:c.730G>C	NP_060666.1:p.Asp244His
ENST00000334398.7:c.730G>C	ENSP00000335261.3:p.Asp244His
ENST00000369439.4:c.730G>C	ENSP00000358447.4:p.Asp244His
ENST00000675642.1:c.763G>C	ENSP00000502604.1:p.Asp255His
XM_011531182.1:c.577G>C	XP_011529484.1:p.Asp193His
XM_011531182.3:c.577G>C	XP_011529484.1:p.Asp193His
XM_017029620.2:c.730G>C	XP_016885109.1:p.Asp244His
XR_247318.1:n.901G>C
XR_247318.3:n.875G>C