Canonical Allele Identifier: CA7296819

Gene: GALC

Linked Data

• ClinVar Variation Id: 554205
• ClinVar RCV Id: RCV000669793
• dbSNP Id: rs143444570
• ExAC: 14:88401062 T / C
• gnomAD v2: 14-88401062-T-C
• gnomAD v3: 14-87934718-T-C
• gnomAD v4: 14-87934718-T-C
• MyVariant Identifiers: chr14:g.88401062T>C (hg19) ; chr14:g.87934718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934718T>C , CM000676.2:g.87934718T>C	GRCh38
NC_000014.8:g.88401062T>C , CM000676.1:g.88401062T>C	GRCh37
NC_000014.7:g.87470815T>C	NCBI36
NG_011853.2:g.63846A>G
NG_011853.3:g.63846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*14A>G MANE Select	ENSP00000261304.2:n.*14A>G
ENST00000261304.6:c.*14A>G	ENSP00000261304.2:n.*14A>G
ENST00000393568.8:c.*14A>G	ENSP00000377198.4:n.*14A>G
ENST00000393569.6:c.*14A>G	ENSP00000377199.2:n.*14A>G
ENST00000544807.6:c.1744-719A>G	ENSP00000437513.2:n.1744-719A>G
ENST00000555000.5:c.1279-719A>G	ENSP00000450472.1:n.1279-719A>G
NM_000153.3:c.*14A>G	NP_000144.2:n.*14A>G
NM_001201401.1:c.*14A>G	NP_001188330.1:n.*14A>G
NM_001201402.1:c.*14A>G	NP_001188331.1:n.*14A>G
XM_011536618.1:c.*14A>G	XP_011534920.1:n.*14A>G
XM_011536618.2:c.*14A>G	XP_011534920.1:n.*14A>G
NM_000153.4:c.*14A>G MANE Select	NP_000144.2:n.*14A>G
NM_001201401.2:c.*14A>G	NP_001188330.1:n.*14A>G
NM_001201402.2:c.*14A>G	NP_001188331.1:n.*14A>G