Canonical Allele Identifier: CA8316397

Gene: ENO3

Linked Data

• dbSNP Id: rs373988255
• ExAC: 17:4858731 G / A
• gnomAD v2: 17-4858731-G-A
• MyVariant Identifiers: chr17:g.4858731G>A (hg19) ; chr17:g.4955436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955436G>A , CM000679.2:g.4955436G>A	GRCh38
NC_000017.10:g.4858731G>A , CM000679.1:g.4858731G>A	GRCh37
NC_000017.9:g.4799477G>A	NCBI36
NG_012063.2:g.14346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.697G>A MANE Select	ENSP00000430055.2:p.Ala233Thr
ENST00000323997.10:c.697G>A	ENSP00000324105.6:p.Ala233Thr
ENST00000518175.1:c.697G>A	ENSP00000431087.1:p.Ala233Thr
ENST00000519584.5:c.568G>A	ENSP00000430636.1:p.Ala190Thr
ENST00000519602.5:c.697G>A	ENSP00000430055.1:p.Ala233Thr
ENST00000521659.5:c.*643G>A	ENSP00000430554.1:n.*643G>A
NM_001193503.1:c.568G>A	NP_001180432.1:p.Ala190Thr
NM_001976.4:c.697G>A	NP_001967.3:p.Ala233Thr
NM_053013.3:c.697G>A	NP_443739.3:p.Ala233Thr
XM_005256521.2:c.724G>A	XP_005256578.1:p.Ala242Thr
XM_011523729.1:c.697G>A	XP_011522031.1:p.Ala233Thr
XM_017024346.2:c.697G>A	XP_016879835.1:p.Ala233Thr
NM_001193503.2:c.568G>A	NP_001180432.1:p.Ala190Thr
NM_001374523.1:c.697G>A	NP_001361452.1:p.Ala233Thr
NM_001374524.1:c.724G>A	NP_001361453.1:p.Ala242Thr
NM_001976.5:c.697G>A	NP_001967.3:p.Ala233Thr
NM_053013.4:c.697G>A MANE Select	NP_443739.3:p.Ala233Thr