Canonical Allele Identifier: CA371489310

Gene: TMEM70

Linked Data

• MyVariant Identifiers: chr8:g.74888645C>A (hg19) ; chr8:g.73976410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976410C>A , CM000670.2:g.73976410C>A	GRCh38
NC_000008.10:g.74888645C>A , CM000670.1:g.74888645C>A	GRCh37
NC_000008.9:g.75051199C>A	NCBI36
NG_016618.1:g.5269C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.129C>A MANE Select	ENSP00000312599.5:p.Ser43Arg
ENST00000312184.5:c.129C>A	ENSP00000312599.5:p.Ser43Arg
ENST00000416961.6:c.129C>A	ENSP00000407695.2:p.Ser43Arg
ENST00000517439.1:c.129C>A	ENSP00000429467.1:p.Ser43Arg
ENST00000517614.1:n.192C>A
ENST00000520167.5:n.317+449C>A
ENST00000523794.1:n.680C>A
NM_001040613.2:c.129C>A	NP_001035703.1:p.Ser43Arg
NM_017866.5:c.129C>A	NP_060336.3:p.Ser43Arg
NR_033334.1:n.269C>A
NM_017866.6:c.129C>A MANE Select	NP_060336.3:p.Ser43Arg
NM_001040613.3:c.129C>A	NP_001035703.1:p.Ser43Arg
NR_033334.2:n.216C>A