Canonical Allele Identifier: CA7297413

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986599C>T , CM000676.2:g.87986599C>T	GRCh38
NC_000014.8:g.88452943C>T , CM000676.1:g.88452943C>T	GRCh37
NC_000014.7:g.87522696C>T	NCBI36
NG_011853.2:g.11965G>A
NG_011853.3:g.11965G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.332G>A MANE Select	NP_000144.2:p.Gly111Asp
ENST00000261304.7:c.332G>A MANE Select	ENSP00000261304.2:p.Gly111Asp
NM_000153.3:c.332G>A	NP_000144.2:p.Gly111Asp
NM_001201401.1:c.263G>A	NP_001188330.1:p.Gly88Asp
NM_001201401.2:c.263G>A	NP_001188330.1:p.Gly88Asp
NM_001201402.1:c.254G>A	NP_001188331.1:p.Gly85Asp
NM_001201402.2:c.254G>A	NP_001188331.1:p.Gly85Asp
ENST00000261304.6:c.332G>A	ENSP00000261304.2:p.Gly111Asp
ENST00000393568.8:c.263G>A	ENSP00000377198.4:p.Gly88Asp
ENST00000393569.6:c.254G>A	ENSP00000377199.2:p.Gly85Asp
ENST00000474294.6:n.322G>A
ENST00000544807.6:c.164G>A	ENSP00000437513.2:p.Gly55Asp
ENST00000554372.5:c.*81G>A	ENSP00000451884.1:n.*81G>A
ENST00000554916.5:n.211G>A
ENST00000556261.5:n.33G>A
ENST00000556879.5:c.392G>A	ENSP00000452208.1:n.392G>A
ENST00000557316.5:c.332G>A	ENSP00000452314.1:p.Gly111Asp
ENST00000622264.4:c.322G>A
XM_011536618.1:c.164G>A	XP_011534920.1:p.Gly55Asp
XM_011536618.2:c.164G>A	XP_011534920.1:p.Gly55Asp