Canonical Allele Identifier: CA390747135

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88429736C>T (hg19) ; chr14:g.87963392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963392C>T , CM000676.2:g.87963392C>T	GRCh38
NC_000014.8:g.88429736C>T , CM000676.1:g.88429736C>T	GRCh37
NC_000014.7:g.87499489C>T	NCBI36
NG_011853.2:g.35172G>A
NG_011853.3:g.35172G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1153G>A MANE Select	ENSP00000261304.2:p.Glu385Lys
ENST00000261304.6:c.1153G>A	ENSP00000261304.2:p.Glu385Lys
ENST00000393568.8:c.1084G>A	ENSP00000377198.4:p.Glu362Lys
ENST00000393569.6:c.1075G>A	ENSP00000377199.2:p.Glu359Lys
ENST00000474294.6:n.1143G>A
ENST00000544807.6:c.985G>A	ENSP00000437513.2:p.Glu329Lys
ENST00000555000.5:c.520G>A	ENSP00000450472.1:p.Glu174Lys
ENST00000557316.5:c.*551G>A	ENSP00000452314.1:n.*551G>A
ENST00000557520.1:n.239G>A
ENST00000622264.4:c.1143G>A
NM_000153.3:c.1153G>A	NP_000144.2:p.Glu385Lys
NM_001201401.1:c.1084G>A	NP_001188330.1:p.Glu362Lys
NM_001201402.1:c.1075G>A	NP_001188331.1:p.Glu359Lys
XM_011536618.1:c.985G>A	XP_011534920.1:p.Glu329Lys
XM_011536618.2:c.985G>A	XP_011534920.1:p.Glu329Lys
NM_000153.4:c.1153G>A MANE Select	NP_000144.2:p.Glu385Lys
NM_001201401.2:c.1084G>A	NP_001188330.1:p.Glu362Lys
NM_001201402.2:c.1075G>A	NP_001188331.1:p.Glu359Lys