Canonical Allele Identifier: CA8316399

Gene: ENO3

Linked Data

• ClinVar Variation Id: 2907301
• ClinVar RCV Id: RCV003632737
• dbSNP Id: rs745882984
• ExAC: 17:4858733 G / T
• gnomAD v2: 17-4858733-G-T
• gnomAD v4: 17-4955438-G-T
• MyVariant Identifiers: chr17:g.4858733G>T (hg19) ; chr17:g.4955438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955438G>T , CM000679.2:g.4955438G>T	GRCh38
NC_000017.10:g.4858733G>T , CM000679.1:g.4858733G>T	GRCh37
NC_000017.9:g.4799479G>T	NCBI36
NG_012063.2:g.14348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.699G>T MANE Select	ENSP00000430055.2:p.Ala233=
ENST00000323997.10:c.699G>T	ENSP00000324105.6:p.Ala233=
ENST00000518175.1:c.699G>T	ENSP00000431087.1:p.Ala233=
ENST00000519584.5:c.570G>T	ENSP00000430636.1:p.Ala190=
ENST00000519602.5:c.699G>T	ENSP00000430055.1:p.Ala233=
ENST00000521659.5:c.*645G>T	ENSP00000430554.1:n.*645G>T
NM_001193503.1:c.570G>T	NP_001180432.1:p.Ala190=
NM_001976.4:c.699G>T	NP_001967.3:p.Ala233=
NM_053013.3:c.699G>T	NP_443739.3:p.Ala233=
XM_005256521.2:c.726G>T	XP_005256578.1:p.Ala242=
XM_011523729.1:c.699G>T	XP_011522031.1:p.Ala233=
XM_017024346.2:c.699G>T	XP_016879835.1:p.Ala233=
NM_001193503.2:c.570G>T	NP_001180432.1:p.Ala190=
NM_001374523.1:c.699G>T	NP_001361452.1:p.Ala233=
NM_001374524.1:c.726G>T	NP_001361453.1:p.Ala242=
NM_001976.5:c.699G>T	NP_001967.3:p.Ala233=
NM_053013.4:c.699G>T MANE Select	NP_443739.3:p.Ala233=