Canonical Allele Identifier: CA397290918

Gene: ENO3

Linked Data

• MyVariant Identifiers: chr17:g.4858728C>T (hg19) ; chr17:g.4955433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955433C>T , CM000679.2:g.4955433C>T	GRCh38
NC_000017.10:g.4858728C>T , CM000679.1:g.4858728C>T	GRCh37
NC_000017.9:g.4799474C>T	NCBI36
NG_012063.2:g.14343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.694C>T MANE Select	ENSP00000430055.2:p.Gln232Ter
ENST00000323997.10:c.694C>T	ENSP00000324105.6:p.Gln232Ter
ENST00000518175.1:c.694C>T	ENSP00000431087.1:p.Gln232Ter
ENST00000519584.5:c.565C>T	ENSP00000430636.1:p.Gln189Ter
ENST00000519602.5:c.694C>T	ENSP00000430055.1:p.Gln232Ter
ENST00000521659.5:c.*640C>T	ENSP00000430554.1:n.*640C>T
NM_001193503.1:c.565C>T	NP_001180432.1:p.Gln189Ter
NM_001976.4:c.694C>T	NP_001967.3:p.Gln232Ter
NM_053013.3:c.694C>T	NP_443739.3:p.Gln232Ter
XM_005256521.2:c.721C>T	XP_005256578.1:p.Gln241Ter
XM_011523729.1:c.694C>T	XP_011522031.1:p.Gln232Ter
XM_017024346.2:c.694C>T	XP_016879835.1:p.Gln232Ter
NM_001193503.2:c.565C>T	NP_001180432.1:p.Gln189Ter
NM_001374523.1:c.694C>T	NP_001361452.1:p.Gln232Ter
NM_001374524.1:c.721C>T	NP_001361453.1:p.Gln241Ter
NM_001976.5:c.694C>T	NP_001967.3:p.Gln232Ter
NM_053013.4:c.694C>T MANE Select	NP_443739.3:p.Gln232Ter