Canonical Allele Identifier: CA873413789
Gene: TMLHE HGNC NCBI

Linked Data

dbSNP Id: rs1227065704
MyVariant Identifiers: chrX:g.155506038G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155506038G>C , CM000685.2:g.155506038G>C GRCh38
NC_000023.10:g.154735699G>C , CM000685.1:g.154735699G>C GRCh37
NC_000023.9:g.154388893G>C NCBI36
NG_021318.1:g.111924C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334398.8:c.995+860C>G MANE Select ENSP00000335261.3:n.995+860C>G
ENST00000675642.1:c.1028+860C>G ENSP00000502604.1:n.1028+860C>G
ENST00000334398.7:c.995+860C>G ENSP00000335261.3:n.995+860C>G
ENST00000369439.4:c.995+860C>G ENSP00000358447.4:n.995+860C>G
NM_001184797.1:c.995+860C>G NP_001171726.1:n.995+860C>G
NM_018196.3:c.995+860C>G NP_060666.1:n.995+860C>G
XM_011531182.1:c.842+860C>G XP_011529484.1:n.842+860C>G
XR_247318.1:n.1166+860C>G
XM_011531182.3:c.842+860C>G XP_011529484.1:n.842+860C>G
XR_247318.3:n.1140+860C>G
NM_018196.4:c.995+860C>G MANE Select NP_060666.1:n.995+860C>G
NM_001184797.2:c.995+860C>G NP_001171726.1:n.995+860C>G