Canonical Allele Identifier: CA287176135

Gene: ENO3

Linked Data

• dbSNP Id: rs1026491128
• gnomAD v4: 17-4955429-C-T
• MyVariant Identifiers: chr17:g.4858724C>T (hg19) ; chr17:g.4955429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955429C>T , CM000679.2:g.4955429C>T	GRCh38
NC_000017.10:g.4858724C>T , CM000679.1:g.4858724C>T	GRCh37
NC_000017.9:g.4799470C>T	NCBI36
NG_012063.2:g.14339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.690C>T MANE Select	ENSP00000430055.2:p.Ala230=
ENST00000323997.10:c.690C>T	ENSP00000324105.6:p.Ala230=
ENST00000518175.1:c.690C>T	ENSP00000431087.1:p.Ala230=
ENST00000519584.5:c.561C>T	ENSP00000430636.1:p.Ala187=
ENST00000519602.5:c.690C>T	ENSP00000430055.1:p.Ala230=
ENST00000521659.5:c.*636C>T	ENSP00000430554.1:n.*636C>T
NM_001193503.1:c.561C>T	NP_001180432.1:p.Ala187=
NM_001976.4:c.690C>T	NP_001967.3:p.Ala230=
NM_053013.3:c.690C>T	NP_443739.3:p.Ala230=
XM_005256521.2:c.717C>T	XP_005256578.1:p.Ala239=
XM_011523729.1:c.690C>T	XP_011522031.1:p.Ala230=
XM_017024346.2:c.690C>T	XP_016879835.1:p.Ala230=
NM_001193503.2:c.561C>T	NP_001180432.1:p.Ala187=
NM_001374523.1:c.690C>T	NP_001361452.1:p.Ala230=
NM_001374524.1:c.717C>T	NP_001361453.1:p.Ala239=
NM_001976.5:c.690C>T	NP_001967.3:p.Ala230=
NM_053013.4:c.690C>T MANE Select	NP_443739.3:p.Ala230=