Canonical Allele Identifier: CA390745548

Gene: GALC

Linked Data

• ClinVar Variation Id: 1324446
• ClinVar RCV Id: RCV001782166
• dbSNP Id: rs1884767890
• MyVariant Identifiers: chr14:g.88406318C>T (hg19) ; chr14:g.87939974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939974C>T , CM000676.2:g.87939974C>T	GRCh38
NC_000014.8:g.88406318C>T , CM000676.1:g.88406318C>T	GRCh37
NC_000014.7:g.87476071C>T	NCBI36
NG_011853.2:g.58590G>A
NG_011853.3:g.58590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1842G>A MANE Select	ENSP00000261304.2:p.Trp614Ter
ENST00000261304.6:c.1842G>A	ENSP00000261304.2:p.Trp614Ter
ENST00000393568.8:c.1773G>A	ENSP00000377198.4:p.Trp591Ter
ENST00000393569.6:c.1764G>A	ENSP00000377199.2:p.Trp588Ter
ENST00000544807.6:c.1674G>A	ENSP00000437513.2:p.Trp558Ter
ENST00000555000.5:c.1209G>A	ENSP00000450472.1:p.Trp403Ter
ENST00000555179.1:c.378G>A
NM_000153.3:c.1842G>A	NP_000144.2:p.Trp614Ter
NM_001201401.1:c.1773G>A	NP_001188330.1:p.Trp591Ter
NM_001201402.1:c.1764G>A	NP_001188331.1:p.Trp588Ter
XM_011536618.1:c.1674G>A	XP_011534920.1:p.Trp558Ter
XM_011536618.2:c.1674G>A	XP_011534920.1:p.Trp558Ter
NM_000153.4:c.1842G>A MANE Select	NP_000144.2:p.Trp614Ter
NM_001201401.2:c.1773G>A	NP_001188330.1:p.Trp591Ter
NM_001201402.2:c.1764G>A	NP_001188331.1:p.Trp588Ter