Canonical Allele Identifier: CA2576392103
Gene: GALK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75758018G>T , CM000679.2:g.75758018G>T GRCh38
NC_000017.10:g.73754099G>T , CM000679.1:g.73754099G>T GRCh37
NC_000017.9:g.71265694G>T NCBI36
NG_007372.1:g.41584G>T
NG_008079.1:g.12182C>A
NG_008079.2:g.12182C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000592997.6:c.1127C>A ENSP00000464765.2:n.1127C>A
ENST00000588479.6:c.*38C>A MANE Select ENSP00000465930.1:n.*38C>A
ENST00000225614.6:c.*22+16C>A ENSP00000225614.1:n.*22+16C>A
ENST00000586733.1:n.419C>A
ENST00000588479.5:c.*38C>A ENSP00000465930.1:n.*38C>A
ENST00000589643.1:n.254+16C>A
ENST00000592997.5:c.593C>A ENSP00000464765.1:n.593C>A
NM_000154.1:c.*38C>A NP_000145.1:n.*38C>A
NM_000154.2:c.*38C>A MANE Select NP_000145.1:n.*38C>A
NM_001381985.1:c.*22+16C>A NP_001368914.1:n.*22+16C>A
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