Canonical Allele Identifier: CA10603540

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155545272C>T , CM000685.2:g.155545272C>T	GRCh38
NC_000023.10:g.154774933C>T , CM000685.1:g.154774933C>T	GRCh37
NC_000023.9:g.154428127C>T	NCBI36
NG_021318.1:g.72690G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.5G>A MANE Select	NP_060666.1:p.Trp2Ter
ENST00000334398.8:c.5G>A MANE Select	ENSP00000335261.3:p.Trp2Ter
NM_001184797.1:c.5G>A	NP_001171726.1:p.Trp2Ter
NM_001184797.2:c.5G>A	NP_001171726.1:p.Trp2Ter
NM_018196.3:c.5G>A	NP_060666.1:p.Trp2Ter
ENST00000334398.7:c.5G>A	ENSP00000335261.3:p.Trp2Ter
ENST00000369439.4:c.5G>A	ENSP00000358447.4:p.Trp2Ter
ENST00000474677.1:n.193G>A
ENST00000487422.1:n.6G>A
ENST00000675642.1:c.38G>A	ENSP00000502604.1:p.Trp13Ter
XM_017029620.2:c.5G>A	XP_016885109.1:p.Trp2Ter
XR_247318.1:n.176G>A
XR_247318.3:n.150G>A