Canonical Allele Identifier: CA337267501

Gene: TMLHE

Linked Data

• dbSNP Id: rs904849141
• gnomAD v2: X-154735575-C-T
• gnomAD v3: X-155505914-C-T
• gnomAD v4: X-155505914-C-T
• MyVariant Identifiers: chrX:g.154735575C>T (hg19) ; chrX:g.155505914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505914C>T , CM000685.2:g.155505914C>T	GRCh38
NC_000023.10:g.154735575C>T , CM000685.1:g.154735575C>T	GRCh37
NC_000023.9:g.154388769C>T	NCBI36
NG_021318.1:g.112048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+984G>A MANE Select	ENSP00000335261.3:n.995+984G>A
ENST00000675642.1:c.1028+984G>A	ENSP00000502604.1:n.1028+984G>A
ENST00000334398.7:c.995+984G>A	ENSP00000335261.3:n.995+984G>A
ENST00000369439.4:c.995+984G>A	ENSP00000358447.4:n.995+984G>A
NM_001184797.1:c.995+984G>A	NP_001171726.1:n.995+984G>A
NM_018196.3:c.995+984G>A	NP_060666.1:n.995+984G>A
XM_011531182.1:c.842+984G>A	XP_011529484.1:n.842+984G>A
XR_247318.1:n.1166+984G>A
XM_011531182.3:c.842+984G>A	XP_011529484.1:n.842+984G>A
XR_247318.3:n.1140+984G>A
NM_018196.4:c.995+984G>A MANE Select	NP_060666.1:n.995+984G>A
NM_001184797.2:c.995+984G>A	NP_001171726.1:n.995+984G>A