Canonical Allele Identifier: CA497679522
Gene: ENO3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4858754G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955459G>C , CM000679.2:g.4955459G>C GRCh38
NC_000017.10:g.4858754G>C , CM000679.1:g.4858754G>C GRCh37
NC_000017.9:g.4799500G>C NCBI36
NG_012063.2:g.14369G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.720G>C MANE Select ENSP00000430055.2:p.Val240=
ENST00000323997.10:c.720G>C ENSP00000324105.6:p.Val240=
ENST00000518175.1:c.720G>C ENSP00000431087.1:p.Val240=
ENST00000519584.5:c.591G>C ENSP00000430636.1:p.Val197=
ENST00000519602.5:c.720G>C ENSP00000430055.1:p.Val240=
ENST00000521659.5:c.*666G>C ENSP00000430554.1:n.*666G>C
NM_001193503.1:c.591G>C NP_001180432.1:p.Val197=
NM_001976.4:c.720G>C NP_001967.3:p.Val240=
NM_053013.3:c.720G>C NP_443739.3:p.Val240=
XM_005256521.2:c.747G>C XP_005256578.1:p.Val249=
XM_011523729.1:c.720G>C XP_011522031.1:p.Val240=
XM_017024346.2:c.720G>C XP_016879835.1:p.Val240=
NM_001193503.2:c.591G>C NP_001180432.1:p.Val197=
NM_001374523.1:c.720G>C NP_001361452.1:p.Val240=
NM_001374524.1:c.747G>C NP_001361453.1:p.Val249=
NM_001976.5:c.720G>C NP_001967.3:p.Val240=
NM_053013.4:c.720G>C MANE Select NP_443739.3:p.Val240=