Canonical Allele Identifier: CA155735

Gene: TMEM70

Linked Data

• ClinVar Variation Id: 130598
• ClinVar RCV Id: RCV000118639 ; RCV000270649 ; RCV000677040
• dbSNP Id: rs8075
• ExAC: 8:74888616 G / C
• gnomAD v2: 8-74888616-G-C
• gnomAD v3: 8-73976381-G-C
• gnomAD v4: 8-73976381-G-C
• MyVariant Identifiers: chr8:g.74888616G>C (hg19) ; chr8:g.73976381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.73976381G>C , CM000670.2:g.73976381G>C	GRCh38
NC_000008.10:g.74888616G>C , CM000670.1:g.74888616G>C	GRCh37
NC_000008.9:g.75051170G>C	NCBI36
NG_016618.1:g.5240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312184.6:c.100G>C MANE Select	ENSP00000312599.5:p.Ala34Pro
ENST00000312184.5:c.100G>C	ENSP00000312599.5:p.Ala34Pro
ENST00000416961.6:c.100G>C	ENSP00000407695.2:p.Ala34Pro
ENST00000517439.1:c.100G>C	ENSP00000429467.1:p.Ala34Pro
ENST00000517614.1:n.163G>C
ENST00000520167.5:n.317+420G>C
ENST00000523794.1:n.651G>C
NM_001040613.2:c.100G>C	NP_001035703.1:p.Ala34Pro
NM_017866.5:c.100G>C	NP_060336.3:p.Ala34Pro
NR_033334.1:n.240G>C
NM_017866.6:c.100G>C MANE Select	NP_060336.3:p.Ala34Pro
NM_001040613.3:c.100G>C	NP_001035703.1:p.Ala34Pro
NR_033334.2:n.187G>C