Canonical Allele Identifier: CA4783928

Gene: TMEM70

Linked Data

• dbSNP Id: rs200602330
• ExAC: 8:74888544 T / C
• gnomAD v2: 8-74888544-T-C
• gnomAD v4: 8-73976309-T-C
• MyVariant Identifiers: chr8:g.74888544T>C (hg19) ; chr8:g.73976309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976309T>C , CM000670.2:g.73976309T>C	GRCh38
NC_000008.10:g.74888544T>C , CM000670.1:g.74888544T>C	GRCh37
NC_000008.9:g.75051098T>C	NCBI36
NG_016618.1:g.5168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.28T>C MANE Select	ENSP00000312599.5:p.Trp10Arg
ENST00000312184.5:c.28T>C	ENSP00000312599.5:p.Trp10Arg
ENST00000416961.6:c.28T>C	ENSP00000407695.2:p.Trp10Arg
ENST00000517439.1:c.28T>C	ENSP00000429467.1:p.Trp10Arg
ENST00000517614.1:n.91T>C
ENST00000520167.5:n.317+348T>C
ENST00000523794.1:n.579T>C
NM_001040613.2:c.28T>C	NP_001035703.1:p.Trp10Arg
NM_017866.5:c.28T>C	NP_060336.3:p.Trp10Arg
NR_033334.1:n.168T>C
NM_017866.6:c.28T>C MANE Select	NP_060336.3:p.Trp10Arg
NM_001040613.3:c.28T>C	NP_001035703.1:p.Trp10Arg
NR_033334.2:n.115T>C