Canonical Allele Identifier: CA390745311

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934844G>C , CM000676.2:g.87934844G>C	GRCh38
NC_000014.8:g.88401188G>C , CM000676.1:g.88401188G>C	GRCh37
NC_000014.7:g.87470941G>C	NCBI36
NG_011853.2:g.63720C>G
NG_011853.3:g.63720C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1946C>G MANE Select	NP_000144.2:p.Ser649Cys
ENST00000261304.7:c.1946C>G MANE Select	ENSP00000261304.2:p.Ser649Cys
NM_000153.3:c.1946C>G	NP_000144.2:p.Ser649Cys
NM_001201401.1:c.1877C>G	NP_001188330.1:p.Ser626Cys
NM_001201401.2:c.1877C>G	NP_001188330.1:p.Ser626Cys
NM_001201402.1:c.1868C>G	NP_001188331.1:p.Ser623Cys
NM_001201402.2:c.1868C>G	NP_001188331.1:p.Ser623Cys
ENST00000261304.6:c.1946C>G	ENSP00000261304.2:p.Ser649Cys
ENST00000393568.8:c.1877C>G	ENSP00000377198.4:p.Ser626Cys
ENST00000393569.6:c.1868C>G	ENSP00000377199.2:p.Ser623Cys
ENST00000544807.6:c.1744-845C>G	ENSP00000437513.2:n.1744-845C>G
ENST00000555000.5:c.1279-845C>G	ENSP00000450472.1:n.1279-845C>G
ENST00000555179.1:c.482C>G
XM_011536618.1:c.1778C>G	XP_011534920.1:p.Ser593Cys
XM_011536618.2:c.1778C>G	XP_011534920.1:p.Ser593Cys