Canonical Allele Identifier: CA16041699

Gene: GALC

Linked Data

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

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