Canonical Allele Identifier: CA2573105871

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939980dup , CM000676.2:g.87939980dup	GRCh38
NC_000014.8:g.88406324dup , CM000676.1:g.88406324dup	GRCh37
NC_000014.7:g.87476077dup	NCBI36
NG_011853.2:g.58584dup
NG_011853.3:g.58584dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1836dup MANE Select	ENSP00000261304.2:p.Gly613TrpfsTer11
ENST00000261304.6:c.1836dup	ENSP00000261304.2:p.Gly613TrpfsTer11
ENST00000393568.8:c.1767dup	ENSP00000377198.4:p.Gly590TrpfsTer11
ENST00000393569.6:c.1758dup	ENSP00000377199.2:p.Gly587TrpfsTer11
ENST00000544807.6:c.1668dup	ENSP00000437513.2:p.Gly557TrpfsTer11
ENST00000555000.5:c.1203dup	ENSP00000450472.1:p.Gly402TrpfsTer11
ENST00000555179.1:c.372dup
NM_000153.3:c.1836dup	NP_000144.2:p.Gly613TrpfsTer11
NM_001201401.1:c.1767dup	NP_001188330.1:p.Gly590TrpfsTer11
NM_001201402.1:c.1758dup	NP_001188331.1:p.Gly587TrpfsTer11
XM_011536618.1:c.1668dup	XP_011534920.1:p.Gly557TrpfsTer11
XM_011536618.2:c.1668dup	XP_011534920.1:p.Gly557TrpfsTer11
NM_000153.4:c.1836dup MANE Select	NP_000144.2:p.Gly613TrpfsTer11
NM_001201401.2:c.1767dup	NP_001188330.1:p.Gly590TrpfsTer11
NM_001201402.2:c.1758dup	NP_001188331.1:p.Gly587TrpfsTer11