Canonical Allele Identifier: CA2467016546
Community Standard Title: NM_018196.4(TMLHE):c.5G= (p.Trp2=)
Gene: TMLHE HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_018196.4:c.5G= MANE Select NP_060666.1:p.Trp2=
ENST00000334398.8:c.5G= MANE Select ENSP00000335261.3:p.Trp2=
NM_001184797.1:c.5G= NP_001171726.1:p.Trp2=
NM_001184797.2:c.5G= NP_001171726.1:p.Trp2=
NM_018196.3:c.5G= NP_060666.1:p.Trp2=
ENST00000334398.7:c.5G= ENSP00000335261.3:p.Trp2=
ENST00000369439.4:c.5G= ENSP00000358447.4:p.Trp2=
ENST00000474677.1:n.193G=
ENST00000487422.1:n.6G=
ENST00000675642.1:c.38G= ENSP00000502604.1:p.Trp13=
XM_017029620.2:c.5G= XP_016885109.1:p.Trp2=
XR_247318.1:n.176G=
XR_247318.3:n.150G=