Canonical Allele Identifier: CA337267505
Gene: TMLHE HGNC NCBI

Linked Data

dbSNP Id: rs938960353
MyVariant Identifiers: chrX:g.155505915G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155505915G>A , CM000685.2:g.155505915G>A GRCh38
NC_000023.10:g.154735576G>A , CM000685.1:g.154735576G>A GRCh37
NC_000023.9:g.154388770G>A NCBI36
NG_021318.1:g.112047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+983C>T MANE Select ENSP00000335261.3:n.995+983C>T
ENST00000675642.1:c.1028+983C>T ENSP00000502604.1:n.1028+983C>T
ENST00000334398.7:c.995+983C>T ENSP00000335261.3:n.995+983C>T
ENST00000369439.4:c.995+983C>T ENSP00000358447.4:n.995+983C>T
NM_001184797.1:c.995+983C>T NP_001171726.1:n.995+983C>T
NM_018196.3:c.995+983C>T NP_060666.1:n.995+983C>T
XM_011531182.1:c.842+983C>T XP_011529484.1:n.842+983C>T
XR_247318.1:n.1166+983C>T
XM_011531182.3:c.842+983C>T XP_011529484.1:n.842+983C>T
XR_247318.3:n.1140+983C>T
NM_018196.4:c.995+983C>T MANE Select NP_060666.1:n.995+983C>T
NM_001184797.2:c.995+983C>T NP_001171726.1:n.995+983C>T