Canonical Allele Identifier: CA397289871

Gene: ENO3

Linked Data

• MyVariant Identifiers: chr17:g.4858429C>A (hg19) ; chr17:g.4955134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955134C>A , CM000679.2:g.4955134C>A	GRCh38
NC_000017.10:g.4858429C>A , CM000679.1:g.4858429C>A	GRCh37
NC_000017.9:g.4799175C>A	NCBI36
NG_012063.2:g.14044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.504C>A MANE Select	ENSP00000430055.2:p.Phe168Leu
ENST00000323997.10:c.504C>A	ENSP00000324105.6:p.Phe168Leu
ENST00000518175.1:c.504C>A	ENSP00000431087.1:p.Phe168Leu
ENST00000519584.5:c.375C>A	ENSP00000430636.1:p.Phe125Leu
ENST00000519602.5:c.504C>A	ENSP00000430055.1:p.Phe168Leu
ENST00000520221.5:c.504C>A	ENSP00000467444.1:p.Phe168Leu
ENST00000521659.5:c.*450C>A	ENSP00000430554.1:n.*450C>A
ENST00000522301.5:c.504C>A	ENSP00000465697.1:p.Phe168Leu
NM_001193503.1:c.375C>A	NP_001180432.1:p.Phe125Leu
NM_001976.4:c.504C>A	NP_001967.3:p.Phe168Leu
NM_053013.3:c.504C>A	NP_443739.3:p.Phe168Leu
XM_005256521.2:c.531C>A	XP_005256578.1:p.Phe177Leu
XM_011523729.1:c.504C>A	XP_011522031.1:p.Phe168Leu
XM_017024346.2:c.504C>A	XP_016879835.1:p.Phe168Leu
NM_001193503.2:c.375C>A	NP_001180432.1:p.Phe125Leu
NM_001374523.1:c.504C>A	NP_001361452.1:p.Phe168Leu
NM_001374524.1:c.531C>A	NP_001361453.1:p.Phe177Leu
NM_001976.5:c.504C>A	NP_001967.3:p.Phe168Leu
NM_053013.4:c.504C>A MANE Select	NP_443739.3:p.Phe168Leu