Canonical Allele Identifier: CA397290246

Gene: ENO3

Linked Data

• gnomAD v4: 17-4955214-T-C
• MyVariant Identifiers: chr17:g.4858509T>C (hg19) ; chr17:g.4955214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955214T>C , CM000679.2:g.4955214T>C	GRCh38
NC_000017.10:g.4858509T>C , CM000679.1:g.4858509T>C	GRCh37
NC_000017.9:g.4799255T>C	NCBI36
NG_012063.2:g.14124T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.584T>C MANE Select	ENSP00000430055.2:p.Val195Ala
ENST00000323997.10:c.584T>C	ENSP00000324105.6:p.Val195Ala
ENST00000518175.1:c.584T>C	ENSP00000431087.1:p.Val195Ala
ENST00000519584.5:c.455T>C	ENSP00000430636.1:p.Val152Ala
ENST00000519602.5:c.584T>C	ENSP00000430055.1:p.Val195Ala
ENST00000520221.5:c.584T>C	ENSP00000467444.1:p.Val195Ala
ENST00000521659.5:c.*530T>C	ENSP00000430554.1:n.*530T>C
ENST00000522301.5:c.584T>C	ENSP00000465697.1:p.Val195Ala
NM_001193503.1:c.455T>C	NP_001180432.1:p.Val152Ala
NM_001976.4:c.584T>C	NP_001967.3:p.Val195Ala
NM_053013.3:c.584T>C	NP_443739.3:p.Val195Ala
XM_005256521.2:c.611T>C	XP_005256578.1:p.Val204Ala
XM_011523729.1:c.584T>C	XP_011522031.1:p.Val195Ala
XM_017024346.2:c.584T>C	XP_016879835.1:p.Val195Ala
NM_001193503.2:c.455T>C	NP_001180432.1:p.Val152Ala
NM_001374523.1:c.584T>C	NP_001361452.1:p.Val195Ala
NM_001374524.1:c.611T>C	NP_001361453.1:p.Val204Ala
NM_001976.5:c.584T>C	NP_001967.3:p.Val195Ala
NM_053013.4:c.584T>C MANE Select	NP_443739.3:p.Val195Ala