Canonical Allele Identifier: CA397291022

Gene: ENO3

Linked Data

• MyVariant Identifiers: chr17:g.4858753T>C (hg19) ; chr17:g.4955458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955458T>C , CM000679.2:g.4955458T>C	GRCh38
NC_000017.10:g.4858753T>C , CM000679.1:g.4858753T>C	GRCh37
NC_000017.9:g.4799499T>C	NCBI36
NG_012063.2:g.14368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.719T>C MANE Select	ENSP00000430055.2:p.Val240Ala
ENST00000323997.10:c.719T>C	ENSP00000324105.6:p.Val240Ala
ENST00000518175.1:c.719T>C	ENSP00000431087.1:p.Val240Ala
ENST00000519584.5:c.590T>C	ENSP00000430636.1:p.Val197Ala
ENST00000519602.5:c.719T>C	ENSP00000430055.1:p.Val240Ala
ENST00000521659.5:c.*665T>C	ENSP00000430554.1:n.*665T>C
NM_001193503.1:c.590T>C	NP_001180432.1:p.Val197Ala
NM_001976.4:c.719T>C	NP_001967.3:p.Val240Ala
NM_053013.3:c.719T>C	NP_443739.3:p.Val240Ala
XM_005256521.2:c.746T>C	XP_005256578.1:p.Val249Ala
XM_011523729.1:c.719T>C	XP_011522031.1:p.Val240Ala
XM_017024346.2:c.719T>C	XP_016879835.1:p.Val240Ala
NM_001193503.2:c.590T>C	NP_001180432.1:p.Val197Ala
NM_001374523.1:c.719T>C	NP_001361452.1:p.Val240Ala
NM_001374524.1:c.746T>C	NP_001361453.1:p.Val249Ala
NM_001976.5:c.719T>C	NP_001967.3:p.Val240Ala
NM_053013.4:c.719T>C MANE Select	NP_443739.3:p.Val240Ala