Canonical Allele Identifier: CA10631560
Gene: TMEM70 HGNC NCBI

Linked Data

ClinVar Variation Id: 363696
ClinVar RCV Id: RCV000407002
dbSNP Id: rs886063101
gnomAD v3: 8-73981817-G-A
gnomAD v4: 8-73981817-G-A
MyVariant Identifiers: chr8:g.74894052G>A (hg19) chr8:g.73981817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73981817G>A , CM000670.2:g.73981817G>A GRCh38
NC_000008.10:g.74894052G>A , CM000670.1:g.74894052G>A GRCh37
NC_000008.9:g.75056606G>A NCBI36
NG_016618.1:g.10676G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312184.6:c.*196G>A MANE Select ENSP00000312599.5:n.*196G>A
ENST00000312184.5:c.*196G>A ENSP00000312599.5:n.*196G>A
NM_001040613.2:c.*669G>A NP_001035703.1:n.*669G>A
NM_017866.5:c.*196G>A NP_060336.3:n.*196G>A
NR_033334.1:n.1212G>A
NM_017866.6:c.*196G>A MANE Select NP_060336.3:n.*196G>A
NM_001040613.3:c.*669G>A NP_001035703.1:n.*669G>A
NR_033334.2:n.1159G>A
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