Canonical Allele Identifier: CA16041693

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947791dup , CM000676.2:g.87947791dup	GRCh38
NC_000014.8:g.88414135dup , CM000676.1:g.88414135dup	GRCh37
NC_000014.7:g.87483888dup	NCBI36
NG_011853.2:g.50773dup
NG_011853.3:g.50773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1426dup MANE Select	ENSP00000261304.2:p.Ser476LysfsTer16
ENST00000261304.6:c.1426dup	ENSP00000261304.2:p.Ser476LysfsTer16
ENST00000393568.8:c.1357dup	ENSP00000377198.4:p.Ser453LysfsTer16
ENST00000393569.6:c.1348dup	ENSP00000377199.2:p.Ser450LysfsTer16
ENST00000544807.6:c.1258dup	ENSP00000437513.2:p.Ser420LysfsTer16
ENST00000555000.5:c.793dup	ENSP00000450472.1:p.Ser265LysfsTer16
ENST00000555179.1:c.143dup
ENST00000557316.5:c.*824dup	ENSP00000452314.1:n.*824dup
NM_000153.3:c.1426dup	NP_000144.2:p.Ser476LysfsTer16
NM_001201401.1:c.1357dup	NP_001188330.1:p.Ser453LysfsTer16
NM_001201402.1:c.1348dup	NP_001188331.1:p.Ser450LysfsTer16
XM_011536618.1:c.1258dup	XP_011534920.1:p.Ser420LysfsTer16
XM_011536618.2:c.1258dup	XP_011534920.1:p.Ser420LysfsTer16
NM_000153.4:c.1426dup MANE Select	NP_000144.2:p.Ser476LysfsTer16
NM_001201401.2:c.1357dup	NP_001188330.1:p.Ser453LysfsTer16
NM_001201402.2:c.1348dup	NP_001188331.1:p.Ser450LysfsTer16