Canonical Allele Identifier: CA16041697
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 371581
ClinVar RCV Id: RCV000409313 RCV003225065
dbSNP Id: rs1057517382
gnomAD v4: 14-87965516-AC-A
MyVariant Identifiers: chr14:g.88431861del (hg19) chr14:g.87965517del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87965517del , CM000676.2:g.87965517del GRCh38
NC_000014.8:g.88431861del , CM000676.1:g.88431861del GRCh37
NC_000014.7:g.87501614del NCBI36
NG_011853.2:g.33047del
NG_011853.3:g.33047del

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1021del MANE Select ENSP00000261304.2:p.Val341SerfsTer18
ENST00000261304.6:c.1021del ENSP00000261304.2:p.Val341SerfsTer18
ENST00000393568.8:c.952del ENSP00000377198.4:p.Val318SerfsTer18
ENST00000393569.6:c.943del ENSP00000377199.2:p.Val315SerfsTer18
ENST00000474294.6:n.1011del
ENST00000544807.6:c.853del ENSP00000437513.2:p.Val285SerfsTer18
ENST00000555000.5:c.388del ENSP00000450472.1:p.Val130SerfsTer18
ENST00000557316.5:c.*419del ENSP00000452314.1:n.*419del
ENST00000557520.1:n.107del
ENST00000622264.4:c.1011del
NM_000153.3:c.1021del NP_000144.2:p.Val341SerfsTer18
NM_001201401.1:c.952del NP_001188330.1:p.Val318SerfsTer18
NM_001201402.1:c.943del NP_001188331.1:p.Val315SerfsTer18
XM_011536618.1:c.853del XP_011534920.1:p.Val285SerfsTer18
XM_011536618.2:c.853del XP_011534920.1:p.Val285SerfsTer18
NM_000153.4:c.1021del MANE Select NP_000144.2:p.Val341SerfsTer18
NM_001201401.2:c.952del NP_001188330.1:p.Val318SerfsTer18
NM_001201402.2:c.943del NP_001188331.1:p.Val315SerfsTer18
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