Canonical Allele Identifier: CA390745565

Gene: GALC

Linked Data

• ClinVar Variation Id: 550658
• ClinVar RCV Id: RCV000665460
• dbSNP Id: rs1555378562
• MyVariant Identifiers: chr14:g.88406326C>T (hg19) ; chr14:g.87939982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939982C>T , CM000676.2:g.87939982C>T	GRCh38
NC_000014.8:g.88406326C>T , CM000676.1:g.88406326C>T	GRCh37
NC_000014.7:g.87476079C>T	NCBI36
NG_011853.2:g.58582G>A
NG_011853.3:g.58582G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1835-1G>A MANE Select	ENSP00000261304.2:n.1835-1G>A
ENST00000261304.6:c.1835-1G>A	ENSP00000261304.2:n.1835-1G>A
ENST00000393568.8:c.1766-1G>A	ENSP00000377198.4:n.1766-1G>A
ENST00000393569.6:c.1757-1G>A	ENSP00000377199.2:n.1757-1G>A
ENST00000544807.6:c.1667-1G>A	ENSP00000437513.2:n.1667-1G>A
ENST00000555000.5:c.1202-1G>A	ENSP00000450472.1:n.1202-1G>A
ENST00000555179.1:c.371-1G>A
NM_000153.3:c.1835-1G>A	NP_000144.2:n.1835-1G>A
NM_001201401.1:c.1766-1G>A	NP_001188330.1:n.1766-1G>A
NM_001201402.1:c.1757-1G>A	NP_001188331.1:n.1757-1G>A
XM_011536618.1:c.1667-1G>A	XP_011534920.1:n.1667-1G>A
XM_011536618.2:c.1667-1G>A	XP_011534920.1:n.1667-1G>A
NM_000153.4:c.1835-1G>A MANE Select	NP_000144.2:n.1835-1G>A
NM_001201401.2:c.1766-1G>A	NP_001188330.1:n.1766-1G>A
NM_001201402.2:c.1757-1G>A	NP_001188331.1:n.1757-1G>A