Canonical Allele Identifier: CA7296809

Gene: GALC

Linked Data

• ClinVar Variation Id: 314736
• ClinVar RCV Id: RCV000264088
• dbSNP Id: rs412915
• ExAC: 14:88400353 C / T
• gnomAD v2: 14-88400353-C-T
• gnomAD v3: 14-87934009-C-T
• gnomAD v4: 14-87934009-C-T
• MyVariant Identifiers: chr14:g.88400353C>T (hg19) ; chr14:g.87934009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934009C>T , CM000676.2:g.87934009C>T	GRCh38
NC_000014.8:g.88400353C>T , CM000676.1:g.88400353C>T	GRCh37
NC_000014.7:g.87470106C>T	NCBI36
NG_011853.2:g.64555G>A
NG_011853.3:g.64555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*723G>A MANE Select	ENSP00000261304.2:n.*723G>A
ENST00000261304.6:c.*723G>A	ENSP00000261304.2:n.*723G>A
ENST00000544807.6:c.1744-10G>A	ENSP00000437513.2:n.1744-10G>A
ENST00000555000.5:c.1279-10G>A	ENSP00000450472.1:n.1279-10G>A
NM_000153.3:c.*723G>A	NP_000144.2:n.*723G>A
NM_001201401.1:c.*723G>A	NP_001188330.1:n.*723G>A
NM_001201402.1:c.*723G>A	NP_001188331.1:n.*723G>A
XM_011536618.1:c.*723G>A	XP_011534920.1:n.*723G>A
XM_011536618.2:c.*723G>A	XP_011534920.1:n.*723G>A
NM_000153.4:c.*723G>A MANE Select	NP_000144.2:n.*723G>A
NM_001201401.2:c.*723G>A	NP_001188330.1:n.*723G>A
NM_001201402.2:c.*723G>A	NP_001188331.1:n.*723G>A