Canonical Allele Identifier: CA264710625

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982234C>T , CM000676.2:g.87982234C>T	GRCh38
NC_000014.8:g.88448578C>T , CM000676.1:g.88448578C>T	GRCh37
NC_000014.7:g.87518331C>T	NCBI36
NG_011853.2:g.16330G>A
NG_011853.3:g.16330G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.592G>A MANE Select	NP_000144.2:p.Glu198Lys
ENST00000261304.7:c.592G>A MANE Select	ENSP00000261304.2:p.Glu198Lys
NM_000153.3:c.592G>A	NP_000144.2:p.Glu198Lys
NM_001201401.1:c.523G>A	NP_001188330.1:p.Glu175Lys
NM_001201401.2:c.523G>A	NP_001188330.1:p.Glu175Lys
NM_001201402.1:c.514G>A	NP_001188331.1:p.Glu172Lys
NM_001201402.2:c.514G>A	NP_001188331.1:p.Glu172Lys
ENST00000261304.6:c.592G>A	ENSP00000261304.2:p.Glu198Lys
ENST00000393568.8:c.523G>A	ENSP00000377198.4:p.Glu175Lys
ENST00000393569.6:c.514G>A	ENSP00000377199.2:p.Glu172Lys
ENST00000474294.6:n.582G>A
ENST00000544807.6:c.424G>A	ENSP00000437513.2:p.Glu142Lys
ENST00000554372.5:c.*341G>A	ENSP00000451884.1:n.*341G>A
ENST00000554916.5:n.471G>A
ENST00000556261.5:n.293G>A
ENST00000557316.5:c.592G>A	ENSP00000452314.1:p.Glu198Lys
ENST00000622264.4:c.582G>A
XM_011536618.1:c.424G>A	XP_011534920.1:p.Glu142Lys
XM_011536618.2:c.424G>A	XP_011534920.1:p.Glu142Lys