Canonical Allele Identifier: CA371489303

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976407-C-A
• MyVariant Identifiers: chr8:g.74888642C>A (hg19) ; chr8:g.73976407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976407C>A , CM000670.2:g.73976407C>A	GRCh38
NC_000008.10:g.74888642C>A , CM000670.1:g.74888642C>A	GRCh37
NC_000008.9:g.75051196C>A	NCBI36
NG_016618.1:g.5266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.126C>A MANE Select	ENSP00000312599.5:p.Ser42Arg
ENST00000312184.5:c.126C>A	ENSP00000312599.5:p.Ser42Arg
ENST00000416961.6:c.126C>A	ENSP00000407695.2:p.Ser42Arg
ENST00000517439.1:c.126C>A	ENSP00000429467.1:p.Ser42Arg
ENST00000517614.1:n.189C>A
ENST00000520167.5:n.317+446C>A
ENST00000523794.1:n.677C>A
NM_001040613.2:c.126C>A	NP_001035703.1:p.Ser42Arg
NM_017866.5:c.126C>A	NP_060336.3:p.Ser42Arg
NR_033334.1:n.266C>A
NM_017866.6:c.126C>A MANE Select	NP_060336.3:p.Ser42Arg
NM_001040613.3:c.126C>A	NP_001035703.1:p.Ser42Arg
NR_033334.2:n.213C>A