Canonical Allele Identifier: CA2244626685
Community Standard Title: NM_053013.4(ENO3):c.212A= (p.Asn71=)
Gene: ENO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4953081A= , CM000679.2:g.4953081A= GRCh38
NC_000017.10:g.4856376A= , CM000679.1:g.4856376A= GRCh37
NG_012063.2:g.11991A=
NG_032945.1:g.1006T=

Transcript Alleles

HGVS Amino-acid Change
NM_053013.4:c.212A= MANE Select NP_443739.3:p.Asn71=
ENST00000519602.6:c.212A= MANE Select ENSP00000430055.2:p.Asn71=
NM_001193503.1:c.181+191A= NP_001180432.1:n.181+191A=
NM_001193503.2:c.181+191A= NP_001180432.1:n.181+191A=
NM_001374523.1:c.212A= NP_001361452.1:p.Asn71=
NM_001374524.1:c.239A= NP_001361453.1:p.Asn80=
NM_001976.4:c.212A= NP_001967.3:p.Asn71=
NM_001976.5:c.212A= NP_001967.3:p.Asn71=
NM_053013.3:c.212A= NP_443739.3:p.Asn71=
ENST00000323997.10:c.212A= ENSP00000324105.6:p.Asn71=
ENST00000518175.1:c.212A= ENSP00000431087.1:p.Asn71=
ENST00000519584.5:c.181+191A= ENSP00000430636.1:n.181+191A=
ENST00000519602.5:c.212A= ENSP00000430055.1:p.Asn71=
ENST00000519834.5:n.278A=
ENST00000520221.5:c.212A= ENSP00000467444.1:p.Asn71=
ENST00000521659.5:c.*158A= ENSP00000430554.1:n.*158A=
ENST00000521811.5:c.212A= ENSP00000464874.1:p.Asn71=
ENST00000522249.5:c.212A= ENSP00000428811.1:p.Asn71=
ENST00000522301.5:c.212A= ENSP00000465697.1:p.Asn71=
ENST00000522798.5:c.212A= ENSP00000428502.1:p.Asn71=
ENST00000571235.5:n.438A=
XM_005256521.2:c.239A= XP_005256578.1:p.Asn80=
XM_011523729.1:c.212A= XP_011522031.1:p.Asn71=
XM_017024346.2:c.212A= XP_016879835.1:p.Asn71=