Canonical Allele Identifier: CA390749342

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442726A>T (hg19) ; chr14:g.87976382A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976382A>T , CM000676.2:g.87976382A>T	GRCh38
NC_000014.8:g.88442726A>T , CM000676.1:g.88442726A>T	GRCh37
NC_000014.7:g.87512479A>T	NCBI36
NG_011853.2:g.22182T>A
NG_011853.3:g.22182T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.728T>A MANE Select	ENSP00000261304.2:p.Leu243His
ENST00000261304.6:c.728T>A	ENSP00000261304.2:p.Leu243His
ENST00000393568.8:c.659T>A	ENSP00000377198.4:p.Leu220His
ENST00000393569.6:c.650T>A	ENSP00000377199.2:p.Leu217His
ENST00000474294.6:n.718T>A
ENST00000477716.3:n.483T>A
ENST00000544807.6:c.560T>A	ENSP00000437513.2:p.Leu187His
ENST00000554916.5:n.607T>A
ENST00000555000.5:c.95T>A	ENSP00000450472.1:p.Leu32His
ENST00000557316.5:c.*126T>A	ENSP00000452314.1:n.*126T>A
ENST00000622264.4:c.718T>A
NM_000153.3:c.728T>A	NP_000144.2:p.Leu243His
NM_001201401.1:c.659T>A	NP_001188330.1:p.Leu220His
NM_001201402.1:c.650T>A	NP_001188331.1:p.Leu217His
XM_011536618.1:c.560T>A	XP_011534920.1:p.Leu187His
XM_011536618.2:c.560T>A	XP_011534920.1:p.Leu187His
NM_000153.4:c.728T>A MANE Select	NP_000144.2:p.Leu243His
NM_001201401.2:c.659T>A	NP_001188330.1:p.Leu220His
NM_001201402.2:c.650T>A	NP_001188331.1:p.Leu217His