Canonical Allele Identifier: CA464494948

Linked Data

MyVariant Identifiers: chr9:g.36219875A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219878A>G , CM000671.2:g.36219878A>G GRCh38
NC_000009.11:g.36219875A>G , CM000671.1:g.36219875A>G GRCh37
NC_000009.10:g.36209875A>G NCBI36
NG_008246.1:g.62167T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1869T>C (GNE) MANE Plus Clinical ENSP00000379839.3:p.Ser623=
ENST00000543356.7:c.1599T>C (GNE) ENSP00000437765.3:p.Ser533=
ENST00000642385.2:c.1776T>C (GNE) MANE Select ENSP00000494141.2:p.Ser592=
ENST00000377902.5:c.1776T>C (GNE) ENSP00000367134.4:p.Ser592=
ENST00000396594.7:c.1869T>C (GNE) ENSP00000379839.3:p.Ser623=
ENST00000447283.6:c.1554T>C (GNE) ENSP00000414760.2:p.Ser518=
ENST00000464497.5:c.485+15699A>G (CLTA) ENSP00000419158.1:n.485+15699A>G
ENST00000539208.5:c.1446T>C (GNE) ENSP00000445117.1:p.Ser482=
ENST00000539815.5:c.1776T>C (GNE) ENSP00000439155.1:p.Ser592=
ENST00000543356.6:c.1761T>C (GNE) ENSP00000437765.2:p.Ser587=
NM_001128227.2:c.1869T>C (GNE) NP_001121699.1:p.Ser623=
NM_001190383.1:c.1554T>C (GNE) NP_001177312.1:p.Ser518=
NM_001190384.1:c.1446T>C (GNE) NP_001177313.1:p.Ser482=
NM_001190388.1:c.1761T>C (GNE) NP_001177317.1:p.Ser587=
NM_005476.5:c.1776T>C (GNE) NP_005467.1:p.Ser592=
XM_005251334.3:c.1716T>C (GNE) XP_005251391.1:p.Ser572=
NM_001190383.2:c.1554T>C (GNE) NP_001177312.1:p.Ser518=
NM_001190384.2:c.1446T>C (GNE) NP_001177313.1:p.Ser482=
NM_005476.6:c.1776T>C (GNE) NP_005467.1:p.Ser592=
XM_005251334.4:c.1716T>C (GNE) XP_005251391.1:p.Ser572=
XM_017014167.1:c.1776T>C (GNE) XP_016869656.1:p.Ser592=
XM_017014168.1:c.1623T>C (GNE) XP_016869657.1:p.Ser541=
NM_001128227.3:c.1869T>C (GNE) MANE Plus Clinical NP_001121699.1:p.Ser623=
NM_001190383.3:c.1554T>C (GNE) NP_001177312.1:p.Ser518=
NM_001190384.3:c.1446T>C (GNE) NP_001177313.1:p.Ser482=
NM_001190388.2:c.1599T>C (GNE) NP_001177317.2:p.Ser533=
NM_001374797.1:c.1623T>C (GNE) NP_001361726.1:p.Ser541=
NM_001374798.1:c.1599T>C (GNE) NP_001361727.1:p.Ser533=
NM_005476.7:c.1776T>C (GNE) MANE Select NP_005467.1:p.Ser592=