Canonical Allele Identifier: CA2797408
Community Standard Title: NM_005255.4(GAK):c.3309G>T (p.Gly1103=)
Gene: GAK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.851949C>A , CM000666.2:g.851949C>A GRCh38
NC_000004.11:g.845737C>A , CM000666.1:g.845737C>A GRCh37
NC_000004.10:g.835737C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005255.4:c.3309G>T MANE Select NP_005246.2:p.Gly1103=
ENST00000314167.9:c.3309G>T MANE Select ENSP00000314499.4:p.Gly1103=
NM_001286833.1:c.3015G>T NP_001273762.1:p.Gly1005=
NM_001318134.1:c.3072G>T NP_001305063.1:p.Gly1024=
NM_001318134.2:c.3072G>T NP_001305063.1:p.Gly1024=
NM_005255.2:c.3309G>T NP_005246.2:p.Gly1103=
NM_005255.3:c.3309G>T NP_005246.2:p.Gly1103=
ENST00000314167.8:c.3309G>T ENSP00000314499.4:p.Gly1103=
ENST00000509566.1:n.1763G>T
ENST00000510799.1:c.667G>T
ENST00000511163.5:c.3072G>T ENSP00000421361.1:p.Gly1024=
ENST00000511345.5:n.1880G>T
ENST00000511980.5:c.776G>T
ENST00000515868.5:n.2216G>T
ENST00000618573.4:c.624G>T ENSP00000484475.1:p.Gly208=
XM_005272268.1:c.3276G>T XP_005272325.1:p.Gly1092=
XM_005272268.2:c.3276G>T XP_005272325.1:p.Gly1092=
XM_005272270.1:c.3284-865G>T XP_005272327.1:n.3284-865G>T
XM_005272270.2:c.3284-865G>T XP_005272327.1:n.3284-865G>T
XM_011513425.1:c.3441G>T XP_011511727.1:p.Gly1147=
XM_011513425.2:c.3441G>T XP_011511727.1:p.Gly1147=
XM_011513426.1:c.3408G>T XP_011511728.1:p.Gly1136=
XM_011513426.2:c.3408G>T XP_011511728.1:p.Gly1136=
XM_011513427.1:c.3351G>T XP_011511729.1:p.Gly1117=
XM_011513427.2:c.3351G>T XP_011511729.1:p.Gly1117=
XM_011513428.1:c.3294G>T XP_011511730.1:p.Gly1098=
XM_011513428.2:c.3294G>T XP_011511730.1:p.Gly1098=
XM_011513429.1:c.3255G>T XP_011511731.1:p.Gly1085=
XM_011513429.2:c.3255G>T XP_011511731.1:p.Gly1085=
XM_011513430.1:c.3204G>T XP_011511732.1:p.Gly1068=
XM_011513431.1:c.3192G>T XP_011511733.1:p.Gly1064=
XM_011513431.2:c.3192G>T XP_011511733.1:p.Gly1064=
XM_011513432.1:c.3177G>T XP_011511734.1:p.Gly1059=
XM_011513432.2:c.3177G>T XP_011511734.1:p.Gly1059=
XM_011513433.1:c.3072G>T XP_011511735.1:p.Gly1024=
XM_011513434.1:c.3033G>T XP_011511736.1:p.Gly1011=
XM_011513434.2:c.3033G>T XP_011511736.1:p.Gly1011=
XM_017007991.1:c.3219G>T XP_016863480.1:p.Gly1073=
XM_017007992.1:c.3114G>T XP_016863481.1:p.Gly1038=
XM_017007993.1:c.3033G>T XP_016863482.1:p.Gly1011=
XM_017007994.1:c.3192G>T XP_016863483.1:p.Gly1064=
XM_017007995.1:c.2769G>T XP_016863484.1:p.Gly923=