Canonical Allele Identifier: CA10569524

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155514133G>A , CM000685.2:g.155514133G>A	GRCh38
NC_000023.10:g.154743794G>A , CM000685.1:g.154743794G>A	GRCh37
NC_000023.9:g.154396988G>A	NCBI36
NG_021318.1:g.103829C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018196.4:c.491C>T MANE Select	NP_060666.1:p.Ser164Leu
ENST00000334398.8:c.491C>T MANE Select	ENSP00000335261.3:p.Ser164Leu
NM_001184797.1:c.491C>T	NP_001171726.1:p.Ser164Leu
NM_001184797.2:c.491C>T	NP_001171726.1:p.Ser164Leu
NM_018196.3:c.491C>T	NP_060666.1:p.Ser164Leu
ENST00000334398.7:c.491C>T	ENSP00000335261.3:p.Ser164Leu
ENST00000369439.4:c.491C>T	ENSP00000358447.4:p.Ser164Leu
ENST00000675642.1:c.524C>T	ENSP00000502604.1:p.Ser175Leu
XM_011531182.1:c.338C>T	XP_011529484.1:p.Ser113Leu
XM_011531182.3:c.338C>T	XP_011529484.1:p.Ser113Leu
XM_017029620.2:c.491C>T	XP_016885109.1:p.Ser164Leu
XR_247318.1:n.662C>T
XR_247318.3:n.636C>T