Canonical Allele Identifier: CA390746305

Gene: GALC

Linked Data

• ClinVar Variation Id: 2701107
• ClinVar RCV Id: RCV003503482
• dbSNP Id: rs1349512789
• gnomAD v2: 14-88412060-C-A
• MyVariant Identifiers: chr14:g.88412060C>A (hg19) ; chr14:g.87945716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945716C>A , CM000676.2:g.87945716C>A	GRCh38
NC_000014.8:g.88412060C>A , CM000676.1:g.88412060C>A	GRCh37
NC_000014.7:g.87481813C>A	NCBI36
NG_011853.2:g.52848G>T
NG_011853.3:g.52848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1507G>T MANE Select	ENSP00000261304.2:p.Glu503Ter
ENST00000261304.6:c.1507G>T	ENSP00000261304.2:p.Glu503Ter
ENST00000393568.8:c.1438G>T	ENSP00000377198.4:p.Glu480Ter
ENST00000393569.6:c.1429G>T	ENSP00000377199.2:p.Glu477Ter
ENST00000544807.6:c.1339G>T	ENSP00000437513.2:p.Glu447Ter
ENST00000555000.5:c.874G>T	ENSP00000450472.1:p.Glu292Ter
ENST00000555179.1:c.206+2012G>T
ENST00000557316.5:c.*905G>T	ENSP00000452314.1:n.*905G>T
NM_000153.3:c.1507G>T	NP_000144.2:p.Glu503Ter
NM_001201401.1:c.1438G>T	NP_001188330.1:p.Glu480Ter
NM_001201402.1:c.1429G>T	NP_001188331.1:p.Glu477Ter
XM_011536618.1:c.1339G>T	XP_011534920.1:p.Glu447Ter
XM_011536618.2:c.1339G>T	XP_011534920.1:p.Glu447Ter
NM_000153.4:c.1507G>T MANE Select	NP_000144.2:p.Glu503Ter
NM_001201401.2:c.1438G>T	NP_001188330.1:p.Glu480Ter
NM_001201402.2:c.1429G>T	NP_001188331.1:p.Glu477Ter