Canonical Allele Identifier: CA390750902

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982245T>C , CM000676.2:g.87982245T>C	GRCh38
NC_000014.8:g.88448589T>C , CM000676.1:g.88448589T>C	GRCh37
NC_000014.7:g.87518342T>C	NCBI36
NG_011853.2:g.16319A>G
NG_011853.3:g.16319A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.583-2A>G MANE Select	NP_000144.2:n.583-2A>G
ENST00000261304.7:c.583-2A>G MANE Select	ENSP00000261304.2:n.583-2A>G
NM_000153.3:c.583-2A>G	NP_000144.2:n.583-2A>G
NM_001201401.1:c.514-2A>G	NP_001188330.1:n.514-2A>G
NM_001201401.2:c.514-2A>G	NP_001188330.1:n.514-2A>G
NM_001201402.1:c.505-2A>G	NP_001188331.1:n.505-2A>G
NM_001201402.2:c.505-2A>G	NP_001188331.1:n.505-2A>G
ENST00000261304.6:c.583-2A>G	ENSP00000261304.2:n.583-2A>G
ENST00000393568.8:c.514-2A>G	ENSP00000377198.4:n.514-2A>G
ENST00000393569.6:c.505-2A>G	ENSP00000377199.2:n.505-2A>G
ENST00000474294.6:n.573-2A>G
ENST00000544807.6:c.415-2A>G	ENSP00000437513.2:n.415-2A>G
ENST00000554372.5:c.*332-2A>G	ENSP00000451884.1:n.*332-2A>G
ENST00000554916.5:n.462-2A>G
ENST00000556261.5:n.284-2A>G
ENST00000557316.5:c.583-2A>G	ENSP00000452314.1:n.583-2A>G
ENST00000622264.4:c.573-2A>G
XM_011536618.1:c.415-2A>G	XP_011534920.1:n.415-2A>G
XM_011536618.2:c.415-2A>G	XP_011534920.1:n.415-2A>G