Canonical Allele Identifier: CA390749652

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976452G>C , CM000676.2:g.87976452G>C	GRCh38
NC_000014.8:g.88442796G>C , CM000676.1:g.88442796G>C	GRCh37
NC_000014.7:g.87512549G>C	NCBI36
NG_011853.2:g.22112C>G
NG_011853.3:g.22112C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.658C>G MANE Select	NP_000144.2:p.Arg220Gly
ENST00000261304.7:c.658C>G MANE Select	ENSP00000261304.2:p.Arg220Gly
NM_000153.3:c.658C>G	NP_000144.2:p.Arg220Gly
NM_001201401.1:c.589C>G	NP_001188330.1:p.Arg197Gly
NM_001201401.2:c.589C>G	NP_001188330.1:p.Arg197Gly
NM_001201402.1:c.580C>G	NP_001188331.1:p.Arg194Gly
NM_001201402.2:c.580C>G	NP_001188331.1:p.Arg194Gly
ENST00000261304.6:c.658C>G	ENSP00000261304.2:p.Arg220Gly
ENST00000393568.8:c.589C>G	ENSP00000377198.4:p.Arg197Gly
ENST00000393569.6:c.580C>G	ENSP00000377199.2:p.Arg194Gly
ENST00000474294.6:n.648C>G
ENST00000477716.3:n.413C>G
ENST00000544807.6:c.490C>G	ENSP00000437513.2:p.Arg164Gly
ENST00000554916.5:n.537C>G
ENST00000555000.5:c.25C>G	ENSP00000450472.1:p.Arg9Gly
ENST00000557316.5:c.*56C>G	ENSP00000452314.1:n.*56C>G
ENST00000622264.4:c.648C>G
XM_011536618.1:c.490C>G	XP_011534920.1:p.Arg164Gly
XM_011536618.2:c.490C>G	XP_011534920.1:p.Arg164Gly