Canonical Allele Identifier: CA397290835

Gene: ENO3

Linked Data

• MyVariant Identifiers: chr17:g.4858714T>A (hg19) ; chr17:g.4955419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955419T>A , CM000679.2:g.4955419T>A	GRCh38
NC_000017.10:g.4858714T>A , CM000679.1:g.4858714T>A	GRCh37
NC_000017.9:g.4799460T>A	NCBI36
NG_012063.2:g.14329T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.680T>A MANE Select	ENSP00000430055.2:p.Leu227Gln
ENST00000323997.10:c.680T>A	ENSP00000324105.6:p.Leu227Gln
ENST00000518175.1:c.680T>A	ENSP00000431087.1:p.Leu227Gln
ENST00000519584.5:c.551T>A	ENSP00000430636.1:p.Leu184Gln
ENST00000519602.5:c.680T>A	ENSP00000430055.1:p.Leu227Gln
ENST00000521659.5:c.*626T>A	ENSP00000430554.1:n.*626T>A
NM_001193503.1:c.551T>A	NP_001180432.1:p.Leu184Gln
NM_001976.4:c.680T>A	NP_001967.3:p.Leu227Gln
NM_053013.3:c.680T>A	NP_443739.3:p.Leu227Gln
XM_005256521.2:c.707T>A	XP_005256578.1:p.Leu236Gln
XM_011523729.1:c.680T>A	XP_011522031.1:p.Leu227Gln
XM_017024346.2:c.680T>A	XP_016879835.1:p.Leu227Gln
NM_001193503.2:c.551T>A	NP_001180432.1:p.Leu184Gln
NM_001374523.1:c.680T>A	NP_001361452.1:p.Leu227Gln
NM_001374524.1:c.707T>A	NP_001361453.1:p.Leu236Gln
NM_001976.5:c.680T>A	NP_001967.3:p.Leu227Gln
NM_053013.4:c.680T>A MANE Select	NP_443739.3:p.Leu227Gln