Canonical Allele Identifier: CA287175925

Gene: ENO3

Linked Data

• dbSNP Id: rs947192863
• gnomAD v2: 17-4858517-G-A
• gnomAD v3: 17-4955222-G-A
• gnomAD v4: 17-4955222-G-A
• MyVariant Identifiers: chr17:g.4858517G>A (hg19) ; chr17:g.4955222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955222G>A , CM000679.2:g.4955222G>A	GRCh38
NC_000017.10:g.4858517G>A , CM000679.1:g.4858517G>A	GRCh37
NC_000017.9:g.4799263G>A	NCBI36
NG_012063.2:g.14132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.592G>A MANE Select	ENSP00000430055.2:p.Ala198Thr
ENST00000323997.10:c.592G>A	ENSP00000324105.6:p.Ala198Thr
ENST00000518175.1:c.592G>A	ENSP00000431087.1:p.Ala198Thr
ENST00000519584.5:c.463G>A	ENSP00000430636.1:p.Ala155Thr
ENST00000519602.5:c.592G>A	ENSP00000430055.1:p.Ala198Thr
ENST00000521659.5:c.*538G>A	ENSP00000430554.1:n.*538G>A
ENST00000522301.5:c.592G>A	ENSP00000465697.1:p.Ala198Thr
NM_001193503.1:c.463G>A	NP_001180432.1:p.Ala155Thr
NM_001976.4:c.592G>A	NP_001967.3:p.Ala198Thr
NM_053013.3:c.592G>A	NP_443739.3:p.Ala198Thr
XM_005256521.2:c.619G>A	XP_005256578.1:p.Ala207Thr
XM_011523729.1:c.592G>A	XP_011522031.1:p.Ala198Thr
XM_017024346.2:c.592G>A	XP_016879835.1:p.Ala198Thr
NM_001193503.2:c.463G>A	NP_001180432.1:p.Ala155Thr
NM_001374523.1:c.592G>A	NP_001361452.1:p.Ala198Thr
NM_001374524.1:c.619G>A	NP_001361453.1:p.Ala207Thr
NM_001976.5:c.592G>A	NP_001967.3:p.Ala198Thr
NM_053013.4:c.592G>A MANE Select	NP_443739.3:p.Ala198Thr