Canonical Allele Identifier: CA2625958167
Gene: GALC HGNC NCBI

Linked Data

gnomAD v4: 14-87933284-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933284G>T , CM000676.2:g.87933284G>T GRCh38
NC_000014.8:g.88399628G>T , CM000676.1:g.88399628G>T GRCh37
NC_000014.7:g.87469381G>T NCBI36
NG_011853.2:g.65280C>A
NG_011853.3:g.65280C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1448C>A MANE Select ENSP00000261304.2:n.*1448C>A
ENST00000261304.6:c.*1448C>A ENSP00000261304.2:n.*1448C>A
ENST00000555000.5:c.*74+615C>A ENSP00000450472.1:n.*74+615C>A
NM_000153.3:c.*1448C>A NP_000144.2:n.*1448C>A
NM_001201401.1:c.*1448C>A NP_001188330.1:n.*1448C>A
NM_001201402.1:c.*1448C>A NP_001188331.1:n.*1448C>A
XM_011536618.1:c.*1448C>A XP_011534920.1:n.*1448C>A
XM_011536618.2:c.*1448C>A XP_011534920.1:n.*1448C>A
NM_000153.4:c.*1448C>A MANE Select NP_000144.2:n.*1448C>A
NM_001201401.2:c.*1448C>A NP_001188330.1:n.*1448C>A
NM_001201402.2:c.*1448C>A NP_001188331.1:n.*1448C>A
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