Canonical Allele Identifier: CA390747390

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963513T>C , CM000676.2:g.87963513T>C	GRCh38
NC_000014.8:g.88429857T>C , CM000676.1:g.88429857T>C	GRCh37
NC_000014.7:g.87499610T>C	NCBI36
NG_011853.2:g.35051A>G
NG_011853.3:g.35051A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1034-2A>G MANE Select	NP_000144.2:n.1034-2A>G
ENST00000261304.7:c.1034-2A>G MANE Select	ENSP00000261304.2:n.1034-2A>G
NM_000153.3:c.1034-2A>G	NP_000144.2:n.1034-2A>G
NM_001201401.1:c.965-2A>G	NP_001188330.1:n.965-2A>G
NM_001201401.2:c.965-2A>G	NP_001188330.1:n.965-2A>G
NM_001201402.1:c.956-2A>G	NP_001188331.1:n.956-2A>G
NM_001201402.2:c.956-2A>G	NP_001188331.1:n.956-2A>G
ENST00000261304.6:c.1034-2A>G	ENSP00000261304.2:n.1034-2A>G
ENST00000393568.8:c.965-2A>G	ENSP00000377198.4:n.965-2A>G
ENST00000393569.6:c.956-2A>G	ENSP00000377199.2:n.956-2A>G
ENST00000474294.6:n.1024-2A>G
ENST00000544807.6:c.866-2A>G	ENSP00000437513.2:n.866-2A>G
ENST00000555000.5:c.401-2A>G	ENSP00000450472.1:n.401-2A>G
ENST00000557316.5:c.*432-2A>G	ENSP00000452314.1:n.*432-2A>G
ENST00000557520.1:n.120-2A>G
ENST00000622264.4:c.1024-2A>G
XM_011536618.1:c.866-2A>G	XP_011534920.1:n.866-2A>G
XM_011536618.2:c.866-2A>G	XP_011534920.1:n.866-2A>G