Canonical Allele Identifier: CA8316405

Gene: ENO3

Linked Data

• ClinVar Variation Id: 1942661
• ClinVar RCV Id: RCV002653854
• dbSNP Id: rs768320684
• ExAC: 17:4858744 C / G
• gnomAD v2: 17-4858744-C-G
• gnomAD v4: 17-4955449-C-G
• MyVariant Identifiers: chr17:g.4858744C>G (hg19) ; chr17:g.4955449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955449C>G , CM000679.2:g.4955449C>G	GRCh38
NC_000017.10:g.4858744C>G , CM000679.1:g.4858744C>G	GRCh37
NC_000017.9:g.4799490C>G	NCBI36
NG_012063.2:g.14359C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.710C>G MANE Select	ENSP00000430055.2:p.Pro237Arg
ENST00000323997.10:c.710C>G	ENSP00000324105.6:p.Pro237Arg
ENST00000518175.1:c.710C>G	ENSP00000431087.1:p.Pro237Arg
ENST00000519584.5:c.581C>G	ENSP00000430636.1:p.Pro194Arg
ENST00000519602.5:c.710C>G	ENSP00000430055.1:p.Pro237Arg
ENST00000521659.5:c.*656C>G	ENSP00000430554.1:n.*656C>G
NM_001193503.1:c.581C>G	NP_001180432.1:p.Pro194Arg
NM_001976.4:c.710C>G	NP_001967.3:p.Pro237Arg
NM_053013.3:c.710C>G	NP_443739.3:p.Pro237Arg
XM_005256521.2:c.737C>G	XP_005256578.1:p.Pro246Arg
XM_011523729.1:c.710C>G	XP_011522031.1:p.Pro237Arg
XM_017024346.2:c.710C>G	XP_016879835.1:p.Pro237Arg
NM_001193503.2:c.581C>G	NP_001180432.1:p.Pro194Arg
NM_001374523.1:c.710C>G	NP_001361452.1:p.Pro237Arg
NM_001374524.1:c.737C>G	NP_001361453.1:p.Pro246Arg
NM_001976.5:c.710C>G	NP_001967.3:p.Pro237Arg
NM_053013.4:c.710C>G MANE Select	NP_443739.3:p.Pro237Arg