Canonical Allele Identifier: CA157134508

Gene: NME8 EPDR1

Linked Data

• dbSNP Id: rs979972783
• gnomAD v2: 7-37927854-T-G
• gnomAD v3: 7-37888252-T-G
• gnomAD v4: 7-37888252-T-G
• MyVariant Identifiers: chr7:g.37927854T>G (hg19) ; chr7:g.37888252T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37888252T>G , CM000669.2:g.37888252T>G	GRCh38
NC_000007.13:g.37927854T>G , CM000669.1:g.37927854T>G	GRCh37
NC_000007.12:g.37894379T>G	NCBI36
NG_015893.1:g.44656T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199447.9:c.1248-25T>G (NME8) MANE Select	ENSP00000199447.4:n.1248-25T>G
ENST00000199447.8:c.1248-25T>G (NME8)	ENSP00000199447.4:n.1248-25T>G
ENST00000426106.1:c.*194-25T>G (NME8)	ENSP00000408841.1:n.*194-25T>G
ENST00000440017.5:c.1248-25T>G (NME8)	ENSP00000397063.1:n.1248-25T>G
ENST00000476620.1:c.-38+30907T>G (EPDR1)	ENSP00000425858.1:n.-38+30907T>G
NM_016616.4:c.1248-25T>G (NME8)	NP_057700.3:n.1248-25T>G
NM_016616.5:c.1248-25T>G (NME8) MANE Select	NP_057700.3:n.1248-25T>G