Canonical Allele Identifier: CA475896095

Gene: TMEM126A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.85650324G>A , CM000673.2:g.85650324G>A	GRCh38
NC_000011.9:g.85361368G>A , CM000673.1:g.85361368G>A	GRCh37
NC_000011.8:g.85039016G>A	NCBI36
NG_017157.1:g.7406G>A
NG_017157.2:g.7406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304511.7:c.69G>A MANE Select	ENSP00000306887.2:p.Gln23=
ENST00000304511.6:c.69G>A	ENSP00000306887.2:p.Gln23=
ENST00000525353.5:c.69G>A	ENSP00000431993.1:p.Gln23=
ENST00000528105.5:c.-125+2235G>A	ENSP00000436590.1:n.-125+2235G>A
ENST00000531366.5:c.69G>A	ENSP00000436723.1:p.Gln23=
ENST00000532180.1:c.-142G>A	ENSP00000434357.1:n.-142G>A
NM_001244735.1:c.-125+2235G>A	NP_001231664.1:n.-125+2235G>A
NM_032273.3:c.69G>A	NP_115649.1:p.Gln23=
NM_032273.4:c.69G>A MANE Select	NP_115649.1:p.Gln23=
NM_001244735.2:c.-125+2235G>A	NP_001231664.1:n.-125+2235G>A