Canonical Allele Identifier: CA873413738

Gene: TMLHE

Linked Data

• dbSNP Id: rs1438726549
• gnomAD v3: X-155505912-A-C
• gnomAD v4: X-155505912-A-C
• MyVariant Identifiers: chrX:g.155505912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505912A>C , CM000685.2:g.155505912A>C	GRCh38
NC_000023.10:g.154735573A>C , CM000685.1:g.154735573A>C	GRCh37
NC_000023.9:g.154388767A>C	NCBI36
NG_021318.1:g.112050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+986T>G MANE Select	ENSP00000335261.3:n.995+986T>G
ENST00000675642.1:c.1028+986T>G	ENSP00000502604.1:n.1028+986T>G
ENST00000334398.7:c.995+986T>G	ENSP00000335261.3:n.995+986T>G
ENST00000369439.4:c.995+986T>G	ENSP00000358447.4:n.995+986T>G
NM_001184797.1:c.995+986T>G	NP_001171726.1:n.995+986T>G
NM_018196.3:c.995+986T>G	NP_060666.1:n.995+986T>G
XM_011531182.1:c.842+986T>G	XP_011529484.1:n.842+986T>G
XR_247318.1:n.1166+986T>G
XM_011531182.3:c.842+986T>G	XP_011529484.1:n.842+986T>G
XR_247318.3:n.1140+986T>G
NM_018196.4:c.995+986T>G MANE Select	NP_060666.1:n.995+986T>G
NM_001184797.2:c.995+986T>G	NP_001171726.1:n.995+986T>G