Canonical Allele Identifier: CA397291005

Gene: ENO3

Linked Data

• gnomAD v4: 17-4955451-G-A
• MyVariant Identifiers: chr17:g.4858746G>A (hg19) ; chr17:g.4955451G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955451G>A , CM000679.2:g.4955451G>A	GRCh38
NC_000017.10:g.4858746G>A , CM000679.1:g.4858746G>A	GRCh37
NC_000017.9:g.4799492G>A	NCBI36
NG_012063.2:g.14361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.712G>A MANE Select	ENSP00000430055.2:p.Asp238Asn
ENST00000323997.10:c.712G>A	ENSP00000324105.6:p.Asp238Asn
ENST00000518175.1:c.712G>A	ENSP00000431087.1:p.Asp238Asn
ENST00000519584.5:c.583G>A	ENSP00000430636.1:p.Asp195Asn
ENST00000519602.5:c.712G>A	ENSP00000430055.1:p.Asp238Asn
ENST00000521659.5:c.*658G>A	ENSP00000430554.1:n.*658G>A
NM_001193503.1:c.583G>A	NP_001180432.1:p.Asp195Asn
NM_001976.4:c.712G>A	NP_001967.3:p.Asp238Asn
NM_053013.3:c.712G>A	NP_443739.3:p.Asp238Asn
XM_005256521.2:c.739G>A	XP_005256578.1:p.Asp247Asn
XM_011523729.1:c.712G>A	XP_011522031.1:p.Asp238Asn
XM_017024346.2:c.712G>A	XP_016879835.1:p.Asp238Asn
NM_001193503.2:c.583G>A	NP_001180432.1:p.Asp195Asn
NM_001374523.1:c.712G>A	NP_001361452.1:p.Asp238Asn
NM_001374524.1:c.739G>A	NP_001361453.1:p.Asp247Asn
NM_001976.5:c.712G>A	NP_001967.3:p.Asp238Asn
NM_053013.4:c.712G>A MANE Select	NP_443739.3:p.Asp238Asn