Canonical Allele Identifier: CA2275668542
Gene: GALK1 HGNC NCBI

Linked Data

dbSNP Id: rs2061559270
gnomAD v4: 17-75757995-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75757995C>T , CM000679.2:g.75757995C>T GRCh38
NC_000017.10:g.73754076C>T , CM000679.1:g.73754076C>T GRCh37
NC_000017.9:g.71265671C>T NCBI36
NG_007372.1:g.41561C>T
NG_008079.1:g.12205G>A
NG_008079.2:g.12205G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000592997.6:c.1150G>A ENSP00000464765.2:n.1150G>A
ENST00000588479.6:c.*61G>A MANE Select ENSP00000465930.1:n.*61G>A
ENST00000225614.6:c.*22+39G>A ENSP00000225614.1:n.*22+39G>A
ENST00000586733.1:n.442G>A
ENST00000588479.5:c.*61G>A ENSP00000465930.1:n.*61G>A
ENST00000589643.1:n.254+39G>A
ENST00000592997.5:c.616G>A ENSP00000464765.1:n.616G>A
NM_000154.1:c.*61G>A NP_000145.1:n.*61G>A
NM_000154.2:c.*61G>A MANE Select NP_000145.1:n.*61G>A
NM_001381985.1:c.*22+39G>A NP_001368914.1:n.*22+39G>A
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