Canonical Allele Identifier: CA658656465

Gene: GALC

Linked Data

• ClinVar Variation Id: 456711
• ClinVar RCV Id: RCV000528992
• dbSNP Id: rs1555381417
• MyVariant Identifiers: chr14:g.88429727del (hg19) ; chr14:g.87963383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963384del , CM000676.2:g.87963384del	GRCh38
NC_000014.8:g.88429728del , CM000676.1:g.88429728del	GRCh37
NC_000014.7:g.87499481del	NCBI36
NG_011853.2:g.35181del
NG_011853.3:g.35181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1161+1del
ENST00000261304.6:c.1161+1del
ENST00000393568.8:c.1092+1del
ENST00000393569.6:c.1083+1del
ENST00000474294.6:n.1152del
ENST00000544807.6:c.993+1del
ENST00000555000.5:c.528+1del
ENST00000557316.5:c.*559+1del
ENST00000557520.1:n.247+1del
ENST00000622264.4:c.1152del
NM_000153.3:c.1161+1del
NM_001201401.1:c.1092+1del
NM_001201402.1:c.1083+1del
XM_011536618.1:c.993+1del
XM_011536618.2:c.993+1del
NM_000153.4:c.1161+1del
NM_001201401.2:c.1092+1del
NM_001201402.2:c.1083+1del