Canonical Allele Identifier: CA8316407

Gene: ENO3

Linked Data

• ClinVar Variation Id: 1392570
• ClinVar RCV Id: RCV001882215
• dbSNP Id: rs764872268
• ExAC: 17:4858750 A / G
• gnomAD v2: 17-4858750-A-G
• gnomAD v3: 17-4955455-A-G
• gnomAD v4: 17-4955455-A-G
• MyVariant Identifiers: chr17:g.4858750A>G (hg19) ; chr17:g.4955455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955455A>G , CM000679.2:g.4955455A>G	GRCh38
NC_000017.10:g.4858750A>G , CM000679.1:g.4858750A>G	GRCh37
NC_000017.9:g.4799496A>G	NCBI36
NG_012063.2:g.14365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.716A>G MANE Select	ENSP00000430055.2:p.Lys239Arg
ENST00000323997.10:c.716A>G	ENSP00000324105.6:p.Lys239Arg
ENST00000518175.1:c.716A>G	ENSP00000431087.1:p.Lys239Arg
ENST00000519584.5:c.587A>G	ENSP00000430636.1:p.Lys196Arg
ENST00000519602.5:c.716A>G	ENSP00000430055.1:p.Lys239Arg
ENST00000521659.5:c.*662A>G	ENSP00000430554.1:n.*662A>G
NM_001193503.1:c.587A>G	NP_001180432.1:p.Lys196Arg
NM_001976.4:c.716A>G	NP_001967.3:p.Lys239Arg
NM_053013.3:c.716A>G	NP_443739.3:p.Lys239Arg
XM_005256521.2:c.743A>G	XP_005256578.1:p.Lys248Arg
XM_011523729.1:c.716A>G	XP_011522031.1:p.Lys239Arg
XM_017024346.2:c.716A>G	XP_016879835.1:p.Lys239Arg
NM_001193503.2:c.587A>G	NP_001180432.1:p.Lys196Arg
NM_001374523.1:c.716A>G	NP_001361452.1:p.Lys239Arg
NM_001374524.1:c.743A>G	NP_001361453.1:p.Lys248Arg
NM_001976.5:c.716A>G	NP_001967.3:p.Lys239Arg
NM_053013.4:c.716A>G MANE Select	NP_443739.3:p.Lys239Arg