Canonical Allele Identifier: CA390752564

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986542T>C , CM000676.2:g.87986542T>C	GRCh38
NC_000014.8:g.88452886T>C , CM000676.1:g.88452886T>C	GRCh37
NC_000014.7:g.87522639T>C	NCBI36
NG_011853.2:g.12022A>G
NG_011853.3:g.12022A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.389A>G MANE Select	NP_000144.2:p.Glu130Gly
ENST00000261304.7:c.389A>G MANE Select	ENSP00000261304.2:p.Glu130Gly
NM_000153.3:c.389A>G	NP_000144.2:p.Glu130Gly
NM_001201401.1:c.320A>G	NP_001188330.1:p.Glu107Gly
NM_001201401.2:c.320A>G	NP_001188330.1:p.Glu107Gly
NM_001201402.1:c.311A>G	NP_001188331.1:p.Glu104Gly
NM_001201402.2:c.311A>G	NP_001188331.1:p.Glu104Gly
ENST00000261304.6:c.389A>G	ENSP00000261304.2:p.Glu130Gly
ENST00000393568.8:c.320A>G	ENSP00000377198.4:p.Glu107Gly
ENST00000393569.6:c.311A>G	ENSP00000377199.2:p.Glu104Gly
ENST00000474294.6:n.379A>G
ENST00000544807.6:c.221A>G	ENSP00000437513.2:p.Glu74Gly
ENST00000554372.5:c.*138A>G	ENSP00000451884.1:n.*138A>G
ENST00000554916.5:n.268A>G
ENST00000556261.5:n.90A>G
ENST00000556879.5:c.449A>G	ENSP00000452208.1:n.449A>G
ENST00000557316.5:c.389A>G	ENSP00000452314.1:p.Glu130Gly
ENST00000622264.4:c.379A>G
XM_011536618.1:c.221A>G	XP_011534920.1:p.Glu74Gly
XM_011536618.2:c.221A>G	XP_011534920.1:p.Glu74Gly