Canonical Allele Identifier: CA2467003816

Gene: TMLHE

Linked Data

• dbSNP Id: rs2067073920

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505976T>C , CM000685.2:g.155505976T>C	GRCh38
NC_000023.10:g.154735637T>C , CM000685.1:g.154735637T>C	GRCh37
NC_000023.9:g.154388831T>C	NCBI36
NG_021318.1:g.111986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+922A>G MANE Select	ENSP00000335261.3:n.995+922A>G
ENST00000675642.1:c.1028+922A>G	ENSP00000502604.1:n.1028+922A>G
ENST00000334398.7:c.995+922A>G	ENSP00000335261.3:n.995+922A>G
ENST00000369439.4:c.995+922A>G	ENSP00000358447.4:n.995+922A>G
NM_001184797.1:c.995+922A>G	NP_001171726.1:n.995+922A>G
NM_018196.3:c.995+922A>G	NP_060666.1:n.995+922A>G
XM_011531182.1:c.842+922A>G	XP_011529484.1:n.842+922A>G
XR_247318.1:n.1166+922A>G
XM_011531182.3:c.842+922A>G	XP_011529484.1:n.842+922A>G
XR_247318.3:n.1140+922A>G
NM_018196.4:c.995+922A>G MANE Select	NP_060666.1:n.995+922A>G
NM_001184797.2:c.995+922A>G	NP_001171726.1:n.995+922A>G