Canonical Allele Identifier: CA381995980

Gene: TMEM126A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.85654137T>A , CM000673.2:g.85654137T>A	GRCh38
NC_000011.9:g.85365181T>A , CM000673.1:g.85365181T>A	GRCh37
NC_000011.8:g.85042829T>A	NCBI36
NG_017157.1:g.11219T>A
NG_017157.2:g.11219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304511.7:c.161T>A MANE Select	ENSP00000306887.2:p.Phe54Tyr
ENST00000304511.6:c.161T>A	ENSP00000306887.2:p.Phe54Tyr
ENST00000525353.5:c.*63T>A	ENSP00000431993.1:n.*63T>A
ENST00000528105.5:c.-50T>A	ENSP00000436590.1:n.-50T>A
ENST00000531366.5:c.161T>A	ENSP00000436723.1:p.Phe54Tyr
ENST00000532180.1:c.-50T>A	ENSP00000434357.1:n.-50T>A
NM_001244735.1:c.-50T>A	NP_001231664.1:n.-50T>A
NM_032273.3:c.161T>A	NP_115649.1:p.Phe54Tyr
NM_032273.4:c.161T>A MANE Select	NP_115649.1:p.Phe54Tyr
NM_001244735.2:c.-50T>A	NP_001231664.1:n.-50T>A