Canonical Allele Identifier: CA912979928

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452841dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986497dup , CM000676.2:g.87986497dup	GRCh38
NC_000014.8:g.88452841dup , CM000676.1:g.88452841dup	GRCh37
NC_000014.7:g.87522594dup	NCBI36
NG_011853.2:g.12067dup
NG_011853.3:g.12067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.434dup MANE Select	ENSP00000261304.2:p.Leu146ThrfsTer?
ENST00000261304.6:c.434dup	ENSP00000261304.2:p.Leu146ThrfsTer?
ENST00000393568.8:c.365dup	ENSP00000377198.4:p.Leu123ThrfsTer?
ENST00000393569.6:c.356dup	ENSP00000377199.2:p.Leu120ThrfsTer?
ENST00000474294.6:n.424dup
ENST00000544807.6:c.266dup	ENSP00000437513.2:p.Leu90ThrfsTer?
ENST00000554372.5:c.*183dup	ENSP00000451884.1:n.*183dup
ENST00000554916.5:n.313dup
ENST00000556261.5:n.135dup
ENST00000556879.5:c.494dup	ENSP00000452208.1:n.494dup
ENST00000557316.5:c.434dup	ENSP00000452314.1:p.Leu146ThrfsTer?
ENST00000622264.4:c.424dup
NM_000153.3:c.434dup	NP_000144.2:p.Leu146ThrfsTer?
NM_001201401.1:c.365dup	NP_001188330.1:p.Leu123ThrfsTer?
NM_001201402.1:c.356dup	NP_001188331.1:p.Leu120ThrfsTer?
XM_011536618.1:c.266dup	XP_011534920.1:p.Leu90ThrfsTer?
XM_011536618.2:c.266dup	XP_011534920.1:p.Leu90ThrfsTer?
NM_000153.4:c.434dup MANE Select	NP_000144.2:p.Leu146ThrfsTer?
NM_001201401.2:c.365dup	NP_001188330.1:p.Leu123ThrfsTer?
NM_001201402.2:c.356dup	NP_001188331.1:p.Leu120ThrfsTer?