Canonical Allele Identifier: CA461451750

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976404-C-G
• MyVariant Identifiers: chr8:g.74888639C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976404C>G , CM000670.2:g.73976404C>G	GRCh38
NC_000008.10:g.74888639C>G , CM000670.1:g.74888639C>G	GRCh37
NC_000008.9:g.75051193C>G	NCBI36
NG_016618.1:g.5263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.123C>G MANE Select	ENSP00000312599.5:p.Ser41=
ENST00000312184.5:c.123C>G	ENSP00000312599.5:p.Ser41=
ENST00000416961.6:c.123C>G	ENSP00000407695.2:p.Ser41=
ENST00000517439.1:c.123C>G	ENSP00000429467.1:p.Ser41=
ENST00000517614.1:n.186C>G
ENST00000520167.5:n.317+443C>G
ENST00000523794.1:n.674C>G
NM_001040613.2:c.123C>G	NP_001035703.1:p.Ser41=
NM_017866.5:c.123C>G	NP_060336.3:p.Ser41=
NR_033334.1:n.263C>G
NM_017866.6:c.123C>G MANE Select	NP_060336.3:p.Ser41=
NM_001040613.3:c.123C>G	NP_001035703.1:p.Ser41=
NR_033334.2:n.210C>G