Canonical Allele Identifier: CA390749842

Gene: GALC

Linked Data

• ClinVar Variation Id: 1322977
• ClinVar RCV Id: RCV001785866 ; RCV002034564
• dbSNP Id: rs1886499951
• gnomAD v3: 14-87976489-C-A
• gnomAD v4: 14-87976489-C-A
• MyVariant Identifiers: chr14:g.88442833C>A (hg19) ; chr14:g.87976489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976489C>A , CM000676.2:g.87976489C>A	GRCh38
NC_000014.8:g.88442833C>A , CM000676.1:g.88442833C>A	GRCh37
NC_000014.7:g.87512586C>A	NCBI36
NG_011853.2:g.22075G>T
NG_011853.3:g.22075G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.622-1G>T MANE Select	ENSP00000261304.2:n.622-1G>T
ENST00000261304.6:c.622-1G>T	ENSP00000261304.2:n.622-1G>T
ENST00000393568.8:c.553-1G>T	ENSP00000377198.4:n.553-1G>T
ENST00000393569.6:c.544-1G>T	ENSP00000377199.2:n.544-1G>T
ENST00000474294.6:n.612-1G>T
ENST00000477716.3:n.376G>T
ENST00000544807.6:c.454-1G>T	ENSP00000437513.2:n.454-1G>T
ENST00000554916.5:n.501-1G>T
ENST00000555000.5:c.-12-1G>T	ENSP00000450472.1:n.-12-1G>T
ENST00000557316.5:c.*20-1G>T	ENSP00000452314.1:n.*20-1G>T
ENST00000622264.4:c.612-1G>T
NM_000153.3:c.622-1G>T	NP_000144.2:n.622-1G>T
NM_001201401.1:c.553-1G>T	NP_001188330.1:n.553-1G>T
NM_001201402.1:c.544-1G>T	NP_001188331.1:n.544-1G>T
XM_011536618.1:c.454-1G>T	XP_011534920.1:n.454-1G>T
XM_011536618.2:c.454-1G>T	XP_011534920.1:n.454-1G>T
NM_000153.4:c.622-1G>T MANE Select	NP_000144.2:n.622-1G>T
NM_001201401.2:c.553-1G>T	NP_001188330.1:n.553-1G>T
NM_001201402.2:c.544-1G>T	NP_001188331.1:n.544-1G>T