Canonical Allele Identifier: CA371489297

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976403-C-G
• MyVariant Identifiers: chr8:g.74888638C>G (hg19) ; chr8:g.73976403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976403C>G , CM000670.2:g.73976403C>G	GRCh38
NC_000008.10:g.74888638C>G , CM000670.1:g.74888638C>G	GRCh37
NC_000008.9:g.75051192C>G	NCBI36
NG_016618.1:g.5262C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.122C>G MANE Select	ENSP00000312599.5:p.Ser41Cys
ENST00000312184.5:c.122C>G	ENSP00000312599.5:p.Ser41Cys
ENST00000416961.6:c.122C>G	ENSP00000407695.2:p.Ser41Cys
ENST00000517439.1:c.122C>G	ENSP00000429467.1:p.Ser41Cys
ENST00000517614.1:n.185C>G
ENST00000520167.5:n.317+442C>G
ENST00000523794.1:n.673C>G
NM_001040613.2:c.122C>G	NP_001035703.1:p.Ser41Cys
NM_017866.5:c.122C>G	NP_060336.3:p.Ser41Cys
NR_033334.1:n.262C>G
NM_017866.6:c.122C>G MANE Select	NP_060336.3:p.Ser41Cys
NM_001040613.3:c.122C>G	NP_001035703.1:p.Ser41Cys
NR_033334.2:n.209C>G