Canonical Allele Identifier: CA8316363

Gene: ENO3

Linked Data

• ClinVar Variation Id: 2082643
• ClinVar RCV Id: RCV003008909
• dbSNP Id: rs576872966
• ExAC: 17:4858543 T / C
• gnomAD v2: 17-4858543-T-C
• gnomAD v3: 17-4955248-T-C
• gnomAD v4: 17-4955248-T-C
• MyVariant Identifiers: chr17:g.4858543T>C (hg19) ; chr17:g.4955248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955248T>C , CM000679.2:g.4955248T>C	GRCh38
NC_000017.10:g.4858543T>C , CM000679.1:g.4858543T>C	GRCh37
NC_000017.9:g.4799289T>C	NCBI36
NG_012063.2:g.14158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.618T>C MANE Select	ENSP00000430055.2:p.Asn206=
ENST00000323997.10:c.618T>C	ENSP00000324105.6:p.Asn206=
ENST00000518175.1:c.618T>C	ENSP00000431087.1:p.Asn206=
ENST00000519584.5:c.489T>C	ENSP00000430636.1:p.Asn163=
ENST00000519602.5:c.618T>C	ENSP00000430055.1:p.Asn206=
ENST00000521659.5:c.*564T>C	ENSP00000430554.1:n.*564T>C
ENST00000522301.5:c.618T>C	ENSP00000465697.1:p.Asn206=
NM_001193503.1:c.489T>C	NP_001180432.1:p.Asn163=
NM_001976.4:c.618T>C	NP_001967.3:p.Asn206=
NM_053013.3:c.618T>C	NP_443739.3:p.Asn206=
XM_005256521.2:c.645T>C	XP_005256578.1:p.Asn215=
XM_011523729.1:c.618T>C	XP_011522031.1:p.Asn206=
XM_017024346.2:c.618T>C	XP_016879835.1:p.Asn206=
NM_001193503.2:c.489T>C	NP_001180432.1:p.Asn163=
NM_001374523.1:c.618T>C	NP_001361452.1:p.Asn206=
NM_001374524.1:c.645T>C	NP_001361453.1:p.Asn215=
NM_001976.5:c.618T>C	NP_001967.3:p.Asn206=
NM_053013.4:c.618T>C MANE Select	NP_443739.3:p.Asn206=