Canonical Allele Identifier: CA8316249

Gene: ENO3

Linked Data

• ClinVar Variation Id: 386601
• ClinVar RCV Id: RCV000427993
• dbSNP Id: rs371895662
• ExAC: 17:4856649 C / T
• gnomAD v2: 17-4856649-C-T
• gnomAD v3: 17-4953354-C-T
• gnomAD v4: 17-4953354-C-T
• MyVariant Identifiers: chr17:g.4856649C>T (hg19) ; chr17:g.4953354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4953354C>T , CM000679.2:g.4953354C>T	GRCh38
NC_000017.10:g.4856649C>T , CM000679.1:g.4856649C>T	GRCh37
NC_000017.9:g.4797395C>T	NCBI36
NG_012063.2:g.12264C>T
NG_032945.1:g.733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.310+13C>T MANE Select	ENSP00000430055.2:n.310+13C>T
ENST00000323997.10:c.310+13C>T	ENSP00000324105.6:n.310+13C>T
ENST00000518175.1:c.310+13C>T	ENSP00000431087.1:n.310+13C>T
ENST00000519584.5:c.182-358C>T	ENSP00000430636.1:n.182-358C>T
ENST00000519602.5:c.310+13C>T	ENSP00000430055.1:n.310+13C>T
ENST00000519834.5:n.376+13C>T
ENST00000520221.5:c.310+13C>T	ENSP00000467444.1:n.310+13C>T
ENST00000521659.5:c.*256+13C>T	ENSP00000430554.1:n.*256+13C>T
ENST00000521811.5:c.310+13C>T	ENSP00000464874.1:n.310+13C>T
ENST00000522249.5:c.310+13C>T	ENSP00000428811.1:n.310+13C>T
ENST00000522301.5:c.310+13C>T	ENSP00000465697.1:n.310+13C>T
ENST00000522798.5:c.310+13C>T	ENSP00000428502.1:n.310+13C>T
NM_001193503.1:c.182-358C>T	NP_001180432.1:n.182-358C>T
NM_001976.4:c.310+13C>T	NP_001967.3:n.310+13C>T
NM_053013.3:c.310+13C>T	NP_443739.3:n.310+13C>T
XM_005256521.2:c.337+13C>T	XP_005256578.1:n.337+13C>T
XM_011523729.1:c.310+13C>T	XP_011522031.1:n.310+13C>T
XM_017024346.2:c.310+13C>T	XP_016879835.1:n.310+13C>T
NM_001193503.2:c.182-358C>T	NP_001180432.1:n.182-358C>T
NM_001374523.1:c.310+13C>T	NP_001361452.1:n.310+13C>T
NM_001374524.1:c.337+13C>T	NP_001361453.1:n.337+13C>T
NM_001976.5:c.310+13C>T	NP_001967.3:n.310+13C>T
NM_053013.4:c.310+13C>T MANE Select	NP_443739.3:n.310+13C>T