Canonical Allele Identifier: CA397290033

Gene: ENO3

Linked Data

• MyVariant Identifiers: chr17:g.4858472C>A (hg19) ; chr17:g.4955177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955177C>A , CM000679.2:g.4955177C>A	GRCh38
NC_000017.10:g.4858472C>A , CM000679.1:g.4858472C>A	GRCh37
NC_000017.9:g.4799218C>A	NCBI36
NG_012063.2:g.14087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.547C>A MANE Select	ENSP00000430055.2:p.Arg183Ser
ENST00000323997.10:c.547C>A	ENSP00000324105.6:p.Arg183Ser
ENST00000518175.1:c.547C>A	ENSP00000431087.1:p.Arg183Ser
ENST00000519584.5:c.418C>A	ENSP00000430636.1:p.Arg140Ser
ENST00000519602.5:c.547C>A	ENSP00000430055.1:p.Arg183Ser
ENST00000520221.5:c.547C>A	ENSP00000467444.1:p.Arg183Ser
ENST00000521659.5:c.*493C>A	ENSP00000430554.1:n.*493C>A
ENST00000522301.5:c.547C>A	ENSP00000465697.1:p.Arg183Ser
NM_001193503.1:c.418C>A	NP_001180432.1:p.Arg140Ser
NM_001976.4:c.547C>A	NP_001967.3:p.Arg183Ser
NM_053013.3:c.547C>A	NP_443739.3:p.Arg183Ser
XM_005256521.2:c.574C>A	XP_005256578.1:p.Arg192Ser
XM_011523729.1:c.547C>A	XP_011522031.1:p.Arg183Ser
XM_017024346.2:c.547C>A	XP_016879835.1:p.Arg183Ser
NM_001193503.2:c.418C>A	NP_001180432.1:p.Arg140Ser
NM_001374523.1:c.547C>A	NP_001361452.1:p.Arg183Ser
NM_001374524.1:c.574C>A	NP_001361453.1:p.Arg192Ser
NM_001976.5:c.547C>A	NP_001967.3:p.Arg183Ser
NM_053013.4:c.547C>A MANE Select	NP_443739.3:p.Arg183Ser