Canonical Allele Identifier: CA8771158
Community Standard Title: NM_000154.2(GALK1):c.-22T>C
Gene: GALK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75765158A>G , CM000679.2:g.75765158A>G GRCh38
NC_000017.10:g.73761239A>G , CM000679.1:g.73761239A>G GRCh37
NC_000017.9:g.71272834A>G NCBI36
NG_008079.1:g.5042T>C
NG_008079.2:g.5042T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000154.2:c.-22T>C MANE Select NP_000145.1:n.-22T>C
ENST00000588479.6:c.-22T>C MANE Select ENSP00000465930.1:n.-22T>C
NM_000154.1:c.-22T>C NP_000145.1:n.-22T>C
NM_001381985.1:c.-22T>C NP_001368914.1:n.-22T>C
ENST00000225614.6:c.-22T>C ENSP00000225614.1:n.-22T>C
ENST00000586244.1:c.-22T>C ENSP00000468288.1:n.-22T>C
ENST00000588479.5:c.-22T>C ENSP00000465930.1:n.-22T>C
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