Canonical Allele Identifier: CA873413796

Gene: TMLHE

Linked Data

• dbSNP Id: rs1232823598
• gnomAD v3: X-155506057-A-T
• gnomAD v4: X-155506057-A-T
• MyVariant Identifiers: chrX:g.155506057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155506057A>T , CM000685.2:g.155506057A>T	GRCh38
NC_000023.10:g.154735718A>T , CM000685.1:g.154735718A>T	GRCh37
NC_000023.9:g.154388912A>T	NCBI36
NG_021318.1:g.111905T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334398.8:c.995+841T>A MANE Select	ENSP00000335261.3:n.995+841T>A
ENST00000675642.1:c.1028+841T>A	ENSP00000502604.1:n.1028+841T>A
ENST00000334398.7:c.995+841T>A	ENSP00000335261.3:n.995+841T>A
ENST00000369439.4:c.995+841T>A	ENSP00000358447.4:n.995+841T>A
NM_001184797.1:c.995+841T>A	NP_001171726.1:n.995+841T>A
NM_018196.3:c.995+841T>A	NP_060666.1:n.995+841T>A
XM_011531182.1:c.842+841T>A	XP_011529484.1:n.842+841T>A
XR_247318.1:n.1166+841T>A
XM_011531182.3:c.842+841T>A	XP_011529484.1:n.842+841T>A
XR_247318.3:n.1140+841T>A
NM_018196.4:c.995+841T>A MANE Select	NP_060666.1:n.995+841T>A
NM_001184797.2:c.995+841T>A	NP_001171726.1:n.995+841T>A