Canonical Allele Identifier: CA264711113

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984533C>T , CM000676.2:g.87984533C>T	GRCh38
NC_000014.8:g.88450877C>T , CM000676.1:g.88450877C>T	GRCh37
NC_000014.7:g.87520630C>T	NCBI36
NG_011853.2:g.14031G>A
NG_011853.3:g.14031G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.443G>A MANE Select	NP_000144.2:p.Gly148Glu
ENST00000261304.7:c.443G>A MANE Select	ENSP00000261304.2:p.Gly148Glu
NM_000153.3:c.443G>A	NP_000144.2:p.Gly148Glu
NM_001201401.1:c.374G>A	NP_001188330.1:p.Gly125Glu
NM_001201401.2:c.374G>A	NP_001188330.1:p.Gly125Glu
NM_001201402.1:c.365G>A	NP_001188331.1:p.Gly122Glu
NM_001201402.2:c.365G>A	NP_001188331.1:p.Gly122Glu
ENST00000261304.6:c.443G>A	ENSP00000261304.2:p.Gly148Glu
ENST00000393568.8:c.374G>A	ENSP00000377198.4:p.Gly125Glu
ENST00000393569.6:c.365G>A	ENSP00000377199.2:p.Gly122Glu
ENST00000474294.6:n.433G>A
ENST00000544807.6:c.275G>A	ENSP00000437513.2:p.Gly92Glu
ENST00000554372.5:c.*192G>A	ENSP00000451884.1:n.*192G>A
ENST00000554916.5:n.322G>A
ENST00000556261.5:n.144G>A
ENST00000556879.5:c.503G>A	ENSP00000452208.1:n.503G>A
ENST00000557316.5:c.443G>A	ENSP00000452314.1:p.Gly148Glu
ENST00000622264.4:c.433G>A
XM_011536618.1:c.275G>A	XP_011534920.1:p.Gly92Glu
XM_011536618.2:c.275G>A	XP_011534920.1:p.Gly92Glu