Canonical Allele Identifier: CA287176103

Gene: ENO3

Linked Data

• dbSNP Id: rs372001257
• gnomAD v3: 17-4955422-A-G
• gnomAD v4: 17-4955422-A-G
• MyVariant Identifiers: chr17:g.4858717A>G (hg19) ; chr17:g.4955422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955422A>G , CM000679.2:g.4955422A>G	GRCh38
NC_000017.10:g.4858717A>G , CM000679.1:g.4858717A>G	GRCh37
NC_000017.9:g.4799463A>G	NCBI36
NG_012063.2:g.14332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.683A>G MANE Select	ENSP00000430055.2:p.Lys228Arg
ENST00000323997.10:c.683A>G	ENSP00000324105.6:p.Lys228Arg
ENST00000518175.1:c.683A>G	ENSP00000431087.1:p.Lys228Arg
ENST00000519584.5:c.554A>G	ENSP00000430636.1:p.Lys185Arg
ENST00000519602.5:c.683A>G	ENSP00000430055.1:p.Lys228Arg
ENST00000521659.5:c.*629A>G	ENSP00000430554.1:n.*629A>G
NM_001193503.1:c.554A>G	NP_001180432.1:p.Lys185Arg
NM_001976.4:c.683A>G	NP_001967.3:p.Lys228Arg
NM_053013.3:c.683A>G	NP_443739.3:p.Lys228Arg
XM_005256521.2:c.710A>G	XP_005256578.1:p.Lys237Arg
XM_011523729.1:c.683A>G	XP_011522031.1:p.Lys228Arg
XM_017024346.2:c.683A>G	XP_016879835.1:p.Lys228Arg
NM_001193503.2:c.554A>G	NP_001180432.1:p.Lys185Arg
NM_001374523.1:c.683A>G	NP_001361452.1:p.Lys228Arg
NM_001374524.1:c.710A>G	NP_001361453.1:p.Lys237Arg
NM_001976.5:c.683A>G	NP_001967.3:p.Lys228Arg
NM_053013.4:c.683A>G MANE Select	NP_443739.3:p.Lys228Arg