Canonical Allele Identifier: CA4783954

Gene: TMEM70

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976398G>A , CM000670.2:g.73976398G>A	GRCh38
NC_000008.10:g.74888633G>A , CM000670.1:g.74888633G>A	GRCh37
NC_000008.9:g.75051187G>A	NCBI36
NG_016618.1:g.5257G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017866.6:c.117G>A MANE Select	NP_060336.3:p.Ala39=
ENST00000312184.6:c.117G>A MANE Select	ENSP00000312599.5:p.Ala39=
NM_001040613.2:c.117G>A	NP_001035703.1:p.Ala39=
NM_001040613.3:c.117G>A	NP_001035703.1:p.Ala39=
NM_017866.5:c.117G>A	NP_060336.3:p.Ala39=
NR_033334.1:n.257G>A
NR_033334.2:n.204G>A
ENST00000312184.5:c.117G>A	ENSP00000312599.5:p.Ala39=
ENST00000416961.6:c.117G>A	ENSP00000407695.2:p.Ala39=
ENST00000517439.1:c.117G>A	ENSP00000429467.1:p.Ala39=
ENST00000517614.1:n.180G>A
ENST00000520167.5:n.317+437G>A
ENST00000523794.1:n.668G>A