Canonical Allele Identifier: CA4222472

Gene: NME8 EPDR1

Linked Data

• dbSNP Id: rs374179412
• ExAC: 7:37927836 T / C
• gnomAD v2: 7-37927836-T-C
• gnomAD v3: 7-37888234-T-C
• gnomAD v4: 7-37888234-T-C
• MyVariant Identifiers: chr7:g.37927836T>C (hg19) ; chr7:g.37888234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37888234T>C , CM000669.2:g.37888234T>C	GRCh38
NC_000007.13:g.37927836T>C , CM000669.1:g.37927836T>C	GRCh37
NC_000007.12:g.37894361T>C	NCBI36
NG_015893.1:g.44638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000199447.9:c.1248-43T>C (NME8) MANE Select	ENSP00000199447.4:n.1248-43T>C
ENST00000199447.8:c.1248-43T>C (NME8)	ENSP00000199447.4:n.1248-43T>C
ENST00000426106.1:c.*194-43T>C (NME8)	ENSP00000408841.1:n.*194-43T>C
ENST00000440017.5:c.1248-43T>C (NME8)	ENSP00000397063.1:n.1248-43T>C
ENST00000476620.1:c.-38+30889T>C (EPDR1)	ENSP00000425858.1:n.-38+30889T>C
NM_016616.4:c.1248-43T>C (NME8)	NP_057700.3:n.1248-43T>C
NM_016616.5:c.1248-43T>C (NME8) MANE Select	NP_057700.3:n.1248-43T>C