Canonical Allele Identifier: CA225302600

Gene: TMEM126A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.85654082T>C , CM000673.2:g.85654082T>C	GRCh38
NC_000011.9:g.85365126T>C , CM000673.1:g.85365126T>C	GRCh37
NC_000011.8:g.85042774T>C	NCBI36
NG_017157.1:g.11164T>C
NG_017157.2:g.11164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304511.7:c.106T>C MANE Select	ENSP00000306887.2:p.Ser36Pro
ENST00000304511.6:c.106T>C	ENSP00000306887.2:p.Ser36Pro
ENST00000525353.5:c.*8T>C	ENSP00000431993.1:n.*8T>C
ENST00000528105.5:c.-105T>C	ENSP00000436590.1:n.-105T>C
ENST00000531366.5:c.106T>C	ENSP00000436723.1:p.Ser36Pro
ENST00000532180.1:c.-105T>C	ENSP00000434357.1:n.-105T>C
NM_001244735.1:c.-105T>C	NP_001231664.1:n.-105T>C
NM_032273.3:c.106T>C	NP_115649.1:p.Ser36Pro
NM_032273.4:c.106T>C MANE Select	NP_115649.1:p.Ser36Pro
NM_001244735.2:c.-105T>C	NP_001231664.1:n.-105T>C