Canonical Allele Identifier: CA873413807

Gene: TMLHE

Linked Data

• dbSNP Id: rs1393250042
• gnomAD v3: X-155506089-G-A
• gnomAD v4: X-155506089-G-A
• MyVariant Identifiers: chrX:g.155506089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155506089G>A , CM000685.2:g.155506089G>A	GRCh38
NC_000023.10:g.154735750G>A , CM000685.1:g.154735750G>A	GRCh37
NC_000023.9:g.154388944G>A	NCBI36
NG_021318.1:g.111873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+809C>T MANE Select	ENSP00000335261.3:n.995+809C>T
ENST00000675642.1:c.1028+809C>T	ENSP00000502604.1:n.1028+809C>T
ENST00000334398.7:c.995+809C>T	ENSP00000335261.3:n.995+809C>T
ENST00000369439.4:c.995+809C>T	ENSP00000358447.4:n.995+809C>T
NM_001184797.1:c.995+809C>T	NP_001171726.1:n.995+809C>T
NM_018196.3:c.995+809C>T	NP_060666.1:n.995+809C>T
XM_011531182.1:c.842+809C>T	XP_011529484.1:n.842+809C>T
XR_247318.1:n.1166+809C>T
XM_011531182.3:c.842+809C>T	XP_011529484.1:n.842+809C>T
XR_247318.3:n.1140+809C>T
NM_018196.4:c.995+809C>T MANE Select	NP_060666.1:n.995+809C>T
NM_001184797.2:c.995+809C>T	NP_001171726.1:n.995+809C>T