Canonical Allele Identifier: CA6034750

Gene: TMEM216

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397888G>A , CM000673.2:g.61397888G>A	GRCh38
NC_000011.9:g.61165360G>A , CM000673.1:g.61165360G>A	GRCh37
NC_000011.8:g.60921936G>A	NCBI36
NG_032976.1:g.10529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.344G>A	ENSP00000334844.5:p.Arg115His
ENST00000544795.6:n.667G>A
ENST00000684926.1:n.406G>A
ENST00000688959.1:c.86G>A	ENSP00000509213.1:p.Arg29His
ENST00000690736.1:c.*69G>A	ENSP00000508542.1:n.*69G>A
ENST00000515837.7:c.344G>A MANE Select	ENSP00000440638.1:p.Arg115His
ENST00000334888.9:c.344G>A	ENSP00000334844.5:p.Arg115His
ENST00000398979.7:c.161G>A	ENSP00000381950.3:p.Arg54His
ENST00000515837.6:c.344G>A	ENSP00000440638.1:p.Arg115His
ENST00000544795.5:n.406G>A
NM_001173990.2:c.344G>A	NP_001167461.1:p.Arg115His
NM_001173991.2:c.344G>A	NP_001167462.1:p.Arg115His
NM_016499.5:c.161G>A	NP_057583.2:p.Arg54His
XM_005274039.3:c.161G>A	XP_005274096.1:p.Arg54His
NM_001330285.1:c.161G>A	NP_001317214.1:p.Arg54His
XM_005274039.4:c.161G>A	XP_005274096.1:p.Arg54His
NM_001173990.3:c.344G>A MANE Select	NP_001167461.1:p.Arg115His
NM_001173991.3:c.344G>A	NP_001167462.1:p.Arg115His
NM_001330285.2:c.161G>A	NP_001317214.1:p.Arg54His
NM_016499.6:c.161G>A	NP_057583.2:p.Arg54His