Canonical Allele Identifier: CA371489107

Gene: TMEM70

Linked Data

• gnomAD v4: 8-73976301-G-T
• MyVariant Identifiers: chr8:g.74888536G>T (hg19) ; chr8:g.73976301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976301G>T , CM000670.2:g.73976301G>T	GRCh38
NC_000008.10:g.74888536G>T , CM000670.1:g.74888536G>T	GRCh37
NC_000008.9:g.75051090G>T	NCBI36
NG_016618.1:g.5160G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312184.6:c.20G>T MANE Select	ENSP00000312599.5:p.Gly7Val
ENST00000312184.5:c.20G>T	ENSP00000312599.5:p.Gly7Val
ENST00000416961.6:c.20G>T	ENSP00000407695.2:p.Gly7Val
ENST00000517439.1:c.20G>T	ENSP00000429467.1:p.Gly7Val
ENST00000517614.1:n.83G>T
ENST00000520167.5:n.317+340G>T
ENST00000523794.1:n.575-4G>T
NM_001040613.2:c.20G>T	NP_001035703.1:p.Gly7Val
NM_017866.5:c.20G>T	NP_060336.3:p.Gly7Val
NR_033334.1:n.160G>T
NM_017866.6:c.20G>T MANE Select	NP_060336.3:p.Gly7Val
NM_001040613.3:c.20G>T	NP_001035703.1:p.Gly7Val
NR_033334.2:n.107G>T