Canonical Allele Identifier: CA624629158

Gene: ENO3

Linked Data

• dbSNP Id: rs1483846699
• gnomAD v2: 17-4858164-C-G
• gnomAD v3: 17-4954869-C-G
• gnomAD v4: 17-4954869-C-G
• MyVariant Identifiers: chr17:g.4858164C>G (hg19) ; chr17:g.4954869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4954869C>G , CM000679.2:g.4954869C>G	GRCh38
NC_000017.10:g.4858164C>G , CM000679.1:g.4858164C>G	GRCh37
NC_000017.9:g.4798910C>G	NCBI36
NG_012063.2:g.13779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.445-206C>G MANE Select	ENSP00000430055.2:n.445-206C>G
ENST00000323997.10:c.445-206C>G	ENSP00000324105.6:n.445-206C>G
ENST00000518175.1:c.445-206C>G	ENSP00000431087.1:n.445-206C>G
ENST00000519584.5:c.316-206C>G	ENSP00000430636.1:n.316-206C>G
ENST00000519602.5:c.445-206C>G	ENSP00000430055.1:n.445-206C>G
ENST00000520221.5:c.445-206C>G	ENSP00000467444.1:n.445-206C>G
ENST00000521659.5:c.*391-206C>G	ENSP00000430554.1:n.*391-206C>G
ENST00000522249.5:c.445-206C>G	ENSP00000428811.1:n.445-206C>G
ENST00000522301.5:c.445-206C>G	ENSP00000465697.1:n.445-206C>G
NM_001193503.1:c.316-206C>G	NP_001180432.1:n.316-206C>G
NM_001976.4:c.445-206C>G	NP_001967.3:n.445-206C>G
NM_053013.3:c.445-206C>G	NP_443739.3:n.445-206C>G
XM_005256521.2:c.472-206C>G	XP_005256578.1:n.472-206C>G
XM_011523729.1:c.445-206C>G	XP_011522031.1:n.445-206C>G
XM_017024346.2:c.445-206C>G	XP_016879835.1:n.445-206C>G
NM_001193503.2:c.316-206C>G	NP_001180432.1:n.316-206C>G
NM_001374523.1:c.445-206C>G	NP_001361452.1:n.445-206C>G
NM_001374524.1:c.472-206C>G	NP_001361453.1:n.472-206C>G
NM_001976.5:c.445-206C>G	NP_001967.3:n.445-206C>G
NM_053013.4:c.445-206C>G MANE Select	NP_443739.3:n.445-206C>G