Canonical Allele Identifier: CA2843045948

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939817dup , CM000676.2:g.87939817dup	GRCh38
NC_000014.8:g.88406161dup , CM000676.1:g.88406161dup	GRCh37
NC_000014.7:g.87475914dup	NCBI36
NG_011853.2:g.58747dup
NG_011853.3:g.58747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1911+88dup MANE Select	ENSP00000261304.2:n.1911+88dup
ENST00000261304.6:c.1911+88dup	ENSP00000261304.2:n.1911+88dup
ENST00000393568.8:c.1842+88dup	ENSP00000377198.4:n.1842+88dup
ENST00000393569.6:c.1833+88dup	ENSP00000377199.2:n.1833+88dup
ENST00000544807.6:c.1743+88dup	ENSP00000437513.2:n.1743+88dup
ENST00000555000.5:c.1278+88dup	ENSP00000450472.1:n.1278+88dup
ENST00000555179.1:c.447+88dup
NM_000153.3:c.1911+88dup	NP_000144.2:n.1911+88dup
NM_001201401.1:c.1842+88dup	NP_001188330.1:n.1842+88dup
NM_001201402.1:c.1833+88dup	NP_001188331.1:n.1833+88dup
XM_011536618.1:c.1743+88dup	XP_011534920.1:n.1743+88dup
XM_011536618.2:c.1743+88dup	XP_011534920.1:n.1743+88dup
NM_000153.4:c.1911+88dup MANE Select	NP_000144.2:n.1911+88dup
NM_001201401.2:c.1842+88dup	NP_001188330.1:n.1842+88dup
NM_001201402.2:c.1833+88dup	NP_001188331.1:n.1833+88dup