Canonical Allele Identifier: CA2573150262

Gene: GALC

Linked Data

• ClinVar Variation Id: 1394821
• ClinVar RCV Id: RCV001927481
• dbSNP Id: rs2139996377

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965588_87965591dup , CM000676.2:g.87965588_87965591dup	GRCh38
NC_000014.8:g.88431932_88431935dup , CM000676.1:g.88431932_88431935dup	GRCh37
NC_000014.7:g.87501685_87501688dup	NCBI36
NG_011853.2:g.32973_32976dup
NG_011853.3:g.32973_32976dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.947_950dup MANE Select	ENSP00000261304.2:p.Pro318ValfsTer?
ENST00000261304.6:c.947_950dup	ENSP00000261304.2:p.Pro318ValfsTer?
ENST00000393568.8:c.878_881dup	ENSP00000377198.4:p.Pro295ValfsTer?
ENST00000393569.6:c.869_872dup	ENSP00000377199.2:p.Pro292ValfsTer?
ENST00000474294.6:n.937_940dup
ENST00000544807.6:c.779_782dup	ENSP00000437513.2:p.Pro262ValfsTer?
ENST00000555000.5:c.314_317dup	ENSP00000450472.1:p.Pro107ValfsTer?
ENST00000557316.5:c.*345_*348dup	ENSP00000452314.1:n.*345_*348dup
ENST00000557520.1:n.33_36dup
ENST00000622264.4:c.937_940dup
NM_000153.3:c.947_950dup	NP_000144.2:p.Pro318ValfsTer?
NM_001201401.1:c.878_881dup	NP_001188330.1:p.Pro295ValfsTer?
NM_001201402.1:c.869_872dup	NP_001188331.1:p.Pro292ValfsTer?
XM_011536618.1:c.779_782dup	XP_011534920.1:p.Pro262ValfsTer?
XM_011536618.2:c.779_782dup	XP_011534920.1:p.Pro262ValfsTer?
NM_000153.4:c.947_950dup MANE Select	NP_000144.2:p.Pro318ValfsTer?
NM_001201401.2:c.878_881dup	NP_001188330.1:p.Pro295ValfsTer?
NM_001201402.2:c.869_872dup	NP_001188331.1:p.Pro292ValfsTer?