Canonical Allele Identifier: CA464494585

Linked Data

MyVariant Identifiers: chr9:g.36217401G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36217404G>T , CM000671.2:g.36217404G>T GRCh38
NC_000009.11:g.36217401G>T , CM000671.1:g.36217401G>T GRCh37
NC_000009.10:g.36207401G>T NCBI36
NG_008246.1:g.64641C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.2223C>A (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ala741=
ENST00000543356.7:c.1953C>A (GNE) ENSP00000437765.3:p.Ala651=
ENST00000642385.2:c.2130C>A (GNE) MANE Select ENSP00000494141.2:p.Ala710=
ENST00000377902.5:c.2130C>A (GNE) ENSP00000367134.4:p.Ala710=
ENST00000396594.7:c.2223C>A (GNE) ENSP00000379839.3:p.Ala741=
ENST00000447283.6:c.1908C>A (GNE) ENSP00000414760.2:p.Ala636=
ENST00000464497.5:c.485+13225G>T (CLTA) ENSP00000419158.1:n.485+13225G>T
ENST00000539208.5:c.1800C>A (GNE) ENSP00000445117.1:p.Ala600=
ENST00000539815.5:c.2130C>A (GNE) ENSP00000439155.1:p.Ala710=
ENST00000543356.6:c.2115C>A (GNE) ENSP00000437765.2:p.Ala705=
NM_001128227.2:c.2223C>A (GNE) NP_001121699.1:p.Ala741=
NM_001190383.1:c.1908C>A (GNE) NP_001177312.1:p.Ala636=
NM_001190384.1:c.1800C>A (GNE) NP_001177313.1:p.Ala600=
NM_001190388.1:c.2115C>A (GNE) NP_001177317.1:p.Ala705=
NM_005476.5:c.2130C>A (GNE) NP_005467.1:p.Ala710=
XM_005251334.3:c.2070C>A (GNE) XP_005251391.1:p.Ala690=
NM_001190383.2:c.1908C>A (GNE) NP_001177312.1:p.Ala636=
NM_001190384.2:c.1800C>A (GNE) NP_001177313.1:p.Ala600=
NM_005476.6:c.2130C>A (GNE) NP_005467.1:p.Ala710=
XM_005251334.4:c.2070C>A (GNE) XP_005251391.1:p.Ala690=
XM_017014167.1:c.2130C>A (GNE) XP_016869656.1:p.Ala710=
XM_017014168.1:c.1977C>A (GNE) XP_016869657.1:p.Ala659=
NM_001128227.3:c.2223C>A (GNE) MANE Plus Clinical NP_001121699.1:p.Ala741=
NM_001190383.3:c.1908C>A (GNE) NP_001177312.1:p.Ala636=
NM_001190384.3:c.1800C>A (GNE) NP_001177313.1:p.Ala600=
NM_001190388.2:c.1953C>A (GNE) NP_001177317.2:p.Ala651=
NM_001374797.1:c.1977C>A (GNE) NP_001361726.1:p.Ala659=
NM_001374798.1:c.1953C>A (GNE) NP_001361727.1:p.Ala651=
NM_005476.7:c.2130C>A (GNE) MANE Select NP_005467.1:p.Ala710=