Canonical Allele Identifier: CA390746116

Gene: GALC

Linked Data

• ClinVar Variation Id: 623356
• ClinVar RCV Id: RCV000761503
• dbSNP Id: rs200378205
• MyVariant Identifiers: chr14:g.88411975C>G (hg19) ; chr14:g.87945631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945631C>G , CM000676.2:g.87945631C>G	GRCh38
NC_000014.8:g.88411975C>G , CM000676.1:g.88411975C>G	GRCh37
NC_000014.7:g.87481728C>G	NCBI36
NG_011853.2:g.52933G>C
NG_011853.3:g.52933G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1592G>C MANE Select	ENSP00000261304.2:p.Arg531Pro
ENST00000261304.6:c.1592G>C	ENSP00000261304.2:p.Arg531Pro
ENST00000393568.8:c.1523G>C	ENSP00000377198.4:p.Arg508Pro
ENST00000393569.6:c.1514G>C	ENSP00000377199.2:p.Arg505Pro
ENST00000544807.6:c.1424G>C	ENSP00000437513.2:p.Arg475Pro
ENST00000555000.5:c.959G>C	ENSP00000450472.1:p.Arg320Pro
ENST00000555179.1:c.206+2097G>C
ENST00000557316.5:c.*990G>C	ENSP00000452314.1:n.*990G>C
NM_000153.3:c.1592G>C	NP_000144.2:p.Arg531Pro
NM_001201401.1:c.1523G>C	NP_001188330.1:p.Arg508Pro
NM_001201402.1:c.1514G>C	NP_001188331.1:p.Arg505Pro
XM_011536618.1:c.1424G>C	XP_011534920.1:p.Arg475Pro
XM_011536618.2:c.1424G>C	XP_011534920.1:p.Arg475Pro
NM_000153.4:c.1592G>C MANE Select	NP_000144.2:p.Arg531Pro
NM_001201401.2:c.1523G>C	NP_001188330.1:p.Arg508Pro
NM_001201402.2:c.1514G>C	NP_001188331.1:p.Arg505Pro