Canonical Allele Identifier: CA126730

Gene: ENO3

Linked Data

• ClinVar Variation Id: 16617
• ClinVar RCV Id: RCV000018092 ; RCV001582485
• dbSNP Id: rs121918403
• ExAC: 17:4858392 G / A
• gnomAD v2: 17-4858392-G-A
• gnomAD v3: 17-4955097-G-A
• gnomAD v4: 17-4955097-G-A
• MyVariant Identifiers: chr17:g.4858392G>A (hg19) ; chr17:g.4955097G>A (hg38)
• PubMed: PMID:11506403

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955097G>A , CM000679.2:g.4955097G>A	GRCh38
NC_000017.10:g.4858392G>A , CM000679.1:g.4858392G>A	GRCh37
NC_000017.9:g.4799138G>A	NCBI36
NG_012063.2:g.14007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.467G>A MANE Select	ENSP00000430055.2:p.Gly156Asp
ENST00000323997.10:c.467G>A	ENSP00000324105.6:p.Gly156Asp
ENST00000518175.1:c.467G>A	ENSP00000431087.1:p.Gly156Asp
ENST00000519584.5:c.338G>A	ENSP00000430636.1:p.Gly113Asp
ENST00000519602.5:c.467G>A	ENSP00000430055.1:p.Gly156Asp
ENST00000520221.5:c.467G>A	ENSP00000467444.1:p.Gly156Asp
ENST00000521659.5:c.*413G>A	ENSP00000430554.1:n.*413G>A
ENST00000522301.5:c.467G>A	ENSP00000465697.1:p.Gly156Asp
NM_001193503.1:c.338G>A	NP_001180432.1:p.Gly113Asp
NM_001976.4:c.467G>A	NP_001967.3:p.Gly156Asp
NM_053013.3:c.467G>A	NP_443739.3:p.Gly156Asp
XM_005256521.2:c.494G>A	XP_005256578.1:p.Gly165Asp
XM_011523729.1:c.467G>A	XP_011522031.1:p.Gly156Asp
XM_017024346.2:c.467G>A	XP_016879835.1:p.Gly156Asp
NM_001193503.2:c.338G>A	NP_001180432.1:p.Gly113Asp
NM_001374523.1:c.467G>A	NP_001361452.1:p.Gly156Asp
NM_001374524.1:c.494G>A	NP_001361453.1:p.Gly165Asp
NM_001976.5:c.467G>A	NP_001967.3:p.Gly156Asp
NM_053013.4:c.467G>A MANE Select	NP_443739.3:p.Gly156Asp