Canonical Allele Identifier: CA397290882

Gene: ENO3

Linked Data

• gnomAD v4: 17-4955427-G-T
• MyVariant Identifiers: chr17:g.4858722G>T (hg19) ; chr17:g.4955427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955427G>T , CM000679.2:g.4955427G>T	GRCh38
NC_000017.10:g.4858722G>T , CM000679.1:g.4858722G>T	GRCh37
NC_000017.9:g.4799468G>T	NCBI36
NG_012063.2:g.14337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.688G>T MANE Select	ENSP00000430055.2:p.Ala230Ser
ENST00000323997.10:c.688G>T	ENSP00000324105.6:p.Ala230Ser
ENST00000518175.1:c.688G>T	ENSP00000431087.1:p.Ala230Ser
ENST00000519584.5:c.559G>T	ENSP00000430636.1:p.Ala187Ser
ENST00000519602.5:c.688G>T	ENSP00000430055.1:p.Ala230Ser
ENST00000521659.5:c.*634G>T	ENSP00000430554.1:n.*634G>T
NM_001193503.1:c.559G>T	NP_001180432.1:p.Ala187Ser
NM_001976.4:c.688G>T	NP_001967.3:p.Ala230Ser
NM_053013.3:c.688G>T	NP_443739.3:p.Ala230Ser
XM_005256521.2:c.715G>T	XP_005256578.1:p.Ala239Ser
XM_011523729.1:c.688G>T	XP_011522031.1:p.Ala230Ser
XM_017024346.2:c.688G>T	XP_016879835.1:p.Ala230Ser
NM_001193503.2:c.559G>T	NP_001180432.1:p.Ala187Ser
NM_001374523.1:c.688G>T	NP_001361452.1:p.Ala230Ser
NM_001374524.1:c.715G>T	NP_001361453.1:p.Ala239Ser
NM_001976.5:c.688G>T	NP_001967.3:p.Ala230Ser
NM_053013.4:c.688G>T MANE Select	NP_443739.3:p.Ala230Ser