Canonical Allele Identifier: CA414939561

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155545271C>G , CM000685.2:g.155545271C>G	GRCh38
NC_000023.10:g.154774932C>G , CM000685.1:g.154774932C>G	GRCh37
NC_000023.9:g.154428126C>G	NCBI36
NG_021318.1:g.72691G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.6G>C MANE Select	NP_060666.1:p.Trp2Cys
ENST00000334398.8:c.6G>C MANE Select	ENSP00000335261.3:p.Trp2Cys
NM_001184797.1:c.6G>C	NP_001171726.1:p.Trp2Cys
NM_001184797.2:c.6G>C	NP_001171726.1:p.Trp2Cys
NM_018196.3:c.6G>C	NP_060666.1:p.Trp2Cys
ENST00000334398.7:c.6G>C	ENSP00000335261.3:p.Trp2Cys
ENST00000369439.4:c.6G>C	ENSP00000358447.4:p.Trp2Cys
ENST00000474677.1:n.194G>C
ENST00000487422.1:n.7G>C
ENST00000675642.1:c.39G>C	ENSP00000502604.1:p.Trp13Cys
XM_017029620.2:c.6G>C	XP_016885109.1:p.Trp2Cys
XR_247318.1:n.177G>C
XR_247318.3:n.151G>C