Canonical Allele Identifier: CA397289787

Gene: ENO3

Linked Data

• ClinVar Variation Id: 2118018
• ClinVar RCV Id: RCV003053519
• MyVariant Identifiers: chr17:g.4858394T>G (hg19) ; chr17:g.4955099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955099T>G , CM000679.2:g.4955099T>G	GRCh38
NC_000017.10:g.4858394T>G , CM000679.1:g.4858394T>G	GRCh37
NC_000017.9:g.4799140T>G	NCBI36
NG_012063.2:g.14009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.469T>G MANE Select	ENSP00000430055.2:p.Ser157Ala
ENST00000323997.10:c.469T>G	ENSP00000324105.6:p.Ser157Ala
ENST00000518175.1:c.469T>G	ENSP00000431087.1:p.Ser157Ala
ENST00000519584.5:c.340T>G	ENSP00000430636.1:p.Ser114Ala
ENST00000519602.5:c.469T>G	ENSP00000430055.1:p.Ser157Ala
ENST00000520221.5:c.469T>G	ENSP00000467444.1:p.Ser157Ala
ENST00000521659.5:c.*415T>G	ENSP00000430554.1:n.*415T>G
ENST00000522301.5:c.469T>G	ENSP00000465697.1:p.Ser157Ala
NM_001193503.1:c.340T>G	NP_001180432.1:p.Ser114Ala
NM_001976.4:c.469T>G	NP_001967.3:p.Ser157Ala
NM_053013.3:c.469T>G	NP_443739.3:p.Ser157Ala
XM_005256521.2:c.496T>G	XP_005256578.1:p.Ser166Ala
XM_011523729.1:c.469T>G	XP_011522031.1:p.Ser157Ala
XM_017024346.2:c.469T>G	XP_016879835.1:p.Ser157Ala
NM_001193503.2:c.340T>G	NP_001180432.1:p.Ser114Ala
NM_001374523.1:c.469T>G	NP_001361452.1:p.Ser157Ala
NM_001374524.1:c.496T>G	NP_001361453.1:p.Ser166Ala
NM_001976.5:c.469T>G	NP_001967.3:p.Ser157Ala
NM_053013.4:c.469T>G MANE Select	NP_443739.3:p.Ser157Ala