Canonical Allele Identifier: CA838185037

Gene: NME8 EPDR1

Linked Data

• dbSNP Id: rs1325368755
• gnomAD v3: 7-37888212-T-C
• gnomAD v4: 7-37888212-T-C
• MyVariant Identifiers: chr7:g.37927814T>C (hg19) ; chr7:g.37888212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37888212T>C , CM000669.2:g.37888212T>C	GRCh38
NC_000007.13:g.37927814T>C , CM000669.1:g.37927814T>C	GRCh37
NC_000007.12:g.37894339T>C	NCBI36
NG_015893.1:g.44616T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000199447.9:c.1248-65T>C (NME8) MANE Select	ENSP00000199447.4:n.1248-65T>C
ENST00000199447.8:c.1248-65T>C (NME8)	ENSP00000199447.4:n.1248-65T>C
ENST00000426106.1:c.*194-65T>C (NME8)	ENSP00000408841.1:n.*194-65T>C
ENST00000440017.5:c.1248-65T>C (NME8)	ENSP00000397063.1:n.1248-65T>C
ENST00000476620.1:c.-38+30867T>C (EPDR1)	ENSP00000425858.1:n.-38+30867T>C
NM_016616.4:c.1248-65T>C (NME8)	NP_057700.3:n.1248-65T>C
NM_016616.5:c.1248-65T>C (NME8) MANE Select	NP_057700.3:n.1248-65T>C