Canonical Allele Identifier: CA11632002
Gene: GAK HGNC NCBI

Linked Data

dbSNP Id: rs1564282
gnomAD v2: 4-852313-C-T
gnomAD v3: 4-858525-C-T
gnomAD v4: 4-858525-C-T
MyVariant Identifiers: chr4:g.852313C>T (hg19) chr4:g.858525C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.858525C>T , CM000666.2:g.858525C>T GRCh38
NC_000004.11:g.852313C>T , CM000666.1:g.852313C>T GRCh37
NC_000004.10:g.842313C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000314167.9:c.3283+1081G>A MANE Select ENSP00000314499.4:n.3283+1081G>A
ENST00000314167.8:c.3283+1081G>A ENSP00000314499.4:n.3283+1081G>A
ENST00000509566.1:n.1737+1081G>A
ENST00000510799.1:c.641+1081G>A
ENST00000511163.5:c.3046+1081G>A ENSP00000421361.1:n.3046+1081G>A
ENST00000511980.5:c.750+837G>A
ENST00000515868.5:n.2191-6551G>A
ENST00000618573.4:c.598+1081G>A ENSP00000484475.1:n.598+1081G>A
NM_001286833.1:c.2989+1081G>A NP_001273762.1:n.2989+1081G>A
NM_005255.2:c.3283+1081G>A NP_005246.2:n.3283+1081G>A
XM_005272268.1:c.3250+1081G>A XP_005272325.1:n.3250+1081G>A
XM_005272270.1:c.3283+1081G>A XP_005272327.1:n.3283+1081G>A
XM_011513425.1:c.3415+837G>A XP_011511727.1:n.3415+837G>A
XM_011513426.1:c.3382+837G>A XP_011511728.1:n.3382+837G>A
XM_011513427.1:c.3325+837G>A XP_011511729.1:n.3325+837G>A
XM_011513428.1:c.3268+837G>A XP_011511730.1:n.3268+837G>A
XM_011513429.1:c.3229+837G>A XP_011511731.1:n.3229+837G>A
XM_011513430.1:c.3178+837G>A XP_011511732.1:n.3178+837G>A
XM_011513431.1:c.3167-6551G>A XP_011511733.1:n.3167-6551G>A
XM_011513432.1:c.3151+837G>A XP_011511734.1:n.3151+837G>A
XM_011513433.1:c.3046+1081G>A XP_011511735.1:n.3046+1081G>A
XM_011513434.1:c.3007+837G>A XP_011511736.1:n.3007+837G>A
NM_001318134.1:c.3046+1081G>A NP_001305063.1:n.3046+1081G>A
NM_005255.3:c.3283+1081G>A NP_005246.2:n.3283+1081G>A
XM_005272268.2:c.3250+1081G>A XP_005272325.1:n.3250+1081G>A
XM_005272270.2:c.3283+1081G>A XP_005272327.1:n.3283+1081G>A
XM_011513425.2:c.3415+837G>A XP_011511727.1:n.3415+837G>A
XM_011513426.2:c.3382+837G>A XP_011511728.1:n.3382+837G>A
XM_011513427.2:c.3325+837G>A XP_011511729.1:n.3325+837G>A
XM_011513428.2:c.3268+837G>A XP_011511730.1:n.3268+837G>A
XM_011513429.2:c.3229+837G>A XP_011511731.1:n.3229+837G>A
XM_011513431.2:c.3167-6551G>A XP_011511733.1:n.3167-6551G>A
XM_011513432.2:c.3151+837G>A XP_011511734.1:n.3151+837G>A
XM_011513434.2:c.3007+837G>A XP_011511736.1:n.3007+837G>A
XM_017007991.1:c.3193+1081G>A XP_016863480.1:n.3193+1081G>A
XM_017007992.1:c.3088+837G>A XP_016863481.1:n.3088+837G>A
XM_017007993.1:c.3007+837G>A XP_016863482.1:n.3007+837G>A
XM_017007994.1:c.3167-6551G>A XP_016863483.1:n.3167-6551G>A
XM_017007995.1:c.2743+837G>A XP_016863484.1:n.2743+837G>A
NM_005255.4:c.3283+1081G>A MANE Select NP_005246.2:n.3283+1081G>A
NM_001318134.2:c.3046+1081G>A NP_001305063.1:n.3046+1081G>A
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