Canonical Allele Identifier: CA16041699
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 370842
ClinVar RCV Id: RCV000410081
dbSNP Id: rs1057516808
MyVariant Identifiers: chr14:g.88431910del (hg19) chr14:g.87965566del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87965566del , CM000676.2:g.87965566del GRCh38
NC_000014.8:g.88431910del , CM000676.1:g.88431910del GRCh37
NC_000014.7:g.87501663del NCBI36
NG_011853.2:g.32998del
NG_011853.3:g.32998del

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.972del MANE Select ENSP00000261304.2:p.Met325Ter
ENST00000261304.6:c.972del ENSP00000261304.2:p.Met325Ter
ENST00000393568.8:c.903del ENSP00000377198.4:p.Met302Ter
ENST00000393569.6:c.894del ENSP00000377199.2:p.Met299Ter
ENST00000474294.6:n.962del
ENST00000544807.6:c.804del ENSP00000437513.2:p.Met269Ter
ENST00000555000.5:c.339del ENSP00000450472.1:p.Met114Ter
ENST00000557316.5:c.*370del ENSP00000452314.1:n.*370del
ENST00000557520.1:n.58del
ENST00000622264.4:c.962del
NM_000153.3:c.972del NP_000144.2:p.Met325Ter
NM_001201401.1:c.903del NP_001188330.1:p.Met302Ter
NM_001201402.1:c.894del NP_001188331.1:p.Met299Ter
XM_011536618.1:c.804del XP_011534920.1:p.Met269Ter
XM_011536618.2:c.804del XP_011534920.1:p.Met269Ter
NM_000153.4:c.972del MANE Select NP_000144.2:p.Met325Ter
NM_001201401.2:c.903del NP_001188330.1:p.Met302Ter
NM_001201402.2:c.894del NP_001188331.1:p.Met299Ter
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