Canonical Allele Identifier: CA358673

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155524585G>A , CM000685.2:g.155524585G>A	GRCh38
NC_000023.10:g.154754246G>A , CM000685.1:g.154754246G>A	GRCh37
NC_000023.9:g.154407440G>A	NCBI36
NG_021318.1:g.93377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.229C>T MANE Select	NP_060666.1:p.Arg77Ter
ENST00000334398.8:c.229C>T MANE Select	ENSP00000335261.3:p.Arg77Ter
NM_001184797.1:c.229C>T	NP_001171726.1:p.Arg77Ter
NM_001184797.2:c.229C>T	NP_001171726.1:p.Arg77Ter
NM_018196.3:c.229C>T	NP_060666.1:p.Arg77Ter
ENST00000334398.7:c.229C>T	ENSP00000335261.3:p.Arg77Ter
ENST00000369439.4:c.229C>T	ENSP00000358447.4:p.Arg77Ter
ENST00000487422.1:n.230C>T
ENST00000675642.1:c.262C>T	ENSP00000502604.1:p.Arg88Ter
XM_011531182.1:c.76C>T	XP_011529484.1:p.Arg26Ter
XM_011531182.3:c.76C>T	XP_011529484.1:p.Arg26Ter
XM_017029620.2:c.229C>T	XP_016885109.1:p.Arg77Ter
XR_247318.1:n.400C>T
XR_247318.3:n.374C>T