Canonical Allele Identifier: CA497679487
Gene: ENO3 HGNC NCBI

Linked Data

dbSNP Id: rs2151143045
MyVariant Identifiers: chr17:g.4858712G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955417G>A , CM000679.2:g.4955417G>A GRCh38
NC_000017.10:g.4858712G>A , CM000679.1:g.4858712G>A GRCh37
NC_000017.9:g.4799458G>A NCBI36
NG_012063.2:g.14327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.678G>A MANE Select ENSP00000430055.2:p.Leu226=
ENST00000323997.10:c.678G>A ENSP00000324105.6:p.Leu226=
ENST00000518175.1:c.678G>A ENSP00000431087.1:p.Leu226=
ENST00000519584.5:c.549G>A ENSP00000430636.1:p.Leu183=
ENST00000519602.5:c.678G>A ENSP00000430055.1:p.Leu226=
ENST00000521659.5:c.*624G>A ENSP00000430554.1:n.*624G>A
NM_001193503.1:c.549G>A NP_001180432.1:p.Leu183=
NM_001976.4:c.678G>A NP_001967.3:p.Leu226=
NM_053013.3:c.678G>A NP_443739.3:p.Leu226=
XM_005256521.2:c.705G>A XP_005256578.1:p.Leu235=
XM_011523729.1:c.678G>A XP_011522031.1:p.Leu226=
XM_017024346.2:c.678G>A XP_016879835.1:p.Leu226=
NM_001193503.2:c.549G>A NP_001180432.1:p.Leu183=
NM_001374523.1:c.678G>A NP_001361452.1:p.Leu226=
NM_001374524.1:c.705G>A NP_001361453.1:p.Leu235=
NM_001976.5:c.678G>A NP_001967.3:p.Leu226=
NM_053013.4:c.678G>A MANE Select NP_443739.3:p.Leu226=