Canonical Allele Identifier: CA461451378

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 2819165
• ClinVar RCV Id: RCV003641541
• MyVariant Identifiers: chr8:g.74888543G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976308G>C , CM000670.2:g.73976308G>C	GRCh38
NC_000008.10:g.74888543G>C , CM000670.1:g.74888543G>C	GRCh37
NC_000008.9:g.75051097G>C	NCBI36
NG_016618.1:g.5167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.27G>C MANE Select	ENSP00000312599.5:p.Pro9=
ENST00000312184.5:c.27G>C	ENSP00000312599.5:p.Pro9=
ENST00000416961.6:c.27G>C	ENSP00000407695.2:p.Pro9=
ENST00000517439.1:c.27G>C	ENSP00000429467.1:p.Pro9=
ENST00000517614.1:n.90G>C
ENST00000520167.5:n.317+347G>C
ENST00000523794.1:n.578G>C
NM_001040613.2:c.27G>C	NP_001035703.1:p.Pro9=
NM_017866.5:c.27G>C	NP_060336.3:p.Pro9=
NR_033334.1:n.167G>C
NM_017866.6:c.27G>C MANE Select	NP_060336.3:p.Pro9=
NM_001040613.3:c.27G>C	NP_001035703.1:p.Pro9=
NR_033334.2:n.114G>C