Canonical Allele Identifier: CA397290580

Gene: ENO3

Linked Data

• dbSNP Id: rs1466624823
• gnomAD v3: 17-4955276-A-T
• gnomAD v4: 17-4955276-A-T
• MyVariant Identifiers: chr17:g.4858571A>T (hg19) ; chr17:g.4955276A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955276A>T , CM000679.2:g.4955276A>T	GRCh38
NC_000017.10:g.4858571A>T , CM000679.1:g.4858571A>T	GRCh37
NC_000017.9:g.4799317A>T	NCBI36
NG_012063.2:g.14186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.646A>T MANE Select	ENSP00000430055.2:p.Asn216Tyr
ENST00000323997.10:c.646A>T	ENSP00000324105.6:p.Asn216Tyr
ENST00000518175.1:c.646A>T	ENSP00000431087.1:p.Asn216Tyr
ENST00000519584.5:c.517A>T	ENSP00000430636.1:p.Asn173Tyr
ENST00000519602.5:c.646A>T	ENSP00000430055.1:p.Asn216Tyr
ENST00000521659.5:c.*592A>T	ENSP00000430554.1:n.*592A>T
NM_001193503.1:c.517A>T	NP_001180432.1:p.Asn173Tyr
NM_001976.4:c.646A>T	NP_001967.3:p.Asn216Tyr
NM_053013.3:c.646A>T	NP_443739.3:p.Asn216Tyr
XM_005256521.2:c.673A>T	XP_005256578.1:p.Asn225Tyr
XM_011523729.1:c.646A>T	XP_011522031.1:p.Asn216Tyr
XM_017024346.2:c.646A>T	XP_016879835.1:p.Asn216Tyr
NM_001193503.2:c.517A>T	NP_001180432.1:p.Asn173Tyr
NM_001374523.1:c.646A>T	NP_001361452.1:p.Asn216Tyr
NM_001374524.1:c.673A>T	NP_001361453.1:p.Asn225Tyr
NM_001976.5:c.646A>T	NP_001967.3:p.Asn216Tyr
NM_053013.4:c.646A>T MANE Select	NP_443739.3:p.Asn216Tyr