Canonical Allele Identifier: CA2499222773

Gene: GALC

Linked Data

• ClinVar Variation Id: 1070765
• ClinVar RCV Id: RCV001383047
• dbSNP Id: rs2139754606

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986498_87986499dup , CM000676.2:g.87986498_87986499dup	GRCh38
NC_000014.8:g.88452842_88452843dup , CM000676.1:g.88452842_88452843dup	GRCh37
NC_000014.7:g.87522595_87522596dup	NCBI36
NG_011853.2:g.12065_12066dup
NG_011853.3:g.12065_12066dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.432_433dup MANE Select	ENSP00000261304.2:p.Thr145IlefsTer27
ENST00000261304.6:c.432_433dup	ENSP00000261304.2:p.Thr145IlefsTer27
ENST00000393568.8:c.363_364dup	ENSP00000377198.4:p.Thr122IlefsTer27
ENST00000393569.6:c.354_355dup	ENSP00000377199.2:p.Thr119IlefsTer27
ENST00000474294.6:n.422_423dup
ENST00000544807.6:c.264_265dup	ENSP00000437513.2:p.Thr89IlefsTer27
ENST00000554372.5:c.*181_*182dup	ENSP00000451884.1:n.*181_*182dup
ENST00000554916.5:n.311_312dup
ENST00000556261.5:n.133_134dup
ENST00000556879.5:c.492_493dup	ENSP00000452208.1:n.492_493dup
ENST00000557316.5:c.432_433dup	ENSP00000452314.1:p.Thr145IlefsTer27
ENST00000622264.4:c.422_423dup
NM_000153.3:c.432_433dup	NP_000144.2:p.Thr145IlefsTer27
NM_001201401.1:c.363_364dup	NP_001188330.1:p.Thr122IlefsTer27
NM_001201402.1:c.354_355dup	NP_001188331.1:p.Thr119IlefsTer27
XM_011536618.1:c.264_265dup	XP_011534920.1:p.Thr89IlefsTer27
XM_011536618.2:c.264_265dup	XP_011534920.1:p.Thr89IlefsTer27
NM_000153.4:c.432_433dup MANE Select	NP_000144.2:p.Thr145IlefsTer27
NM_001201401.2:c.363_364dup	NP_001188330.1:p.Thr122IlefsTer27
NM_001201402.2:c.354_355dup	NP_001188331.1:p.Thr119IlefsTer27