Canonical Allele Identifier: CA7296810

Gene: GALC

Linked Data

• ClinVar Variation Id: 314737
• ClinVar RCV Id: RCV000319251
• dbSNP Id: rs45572135
• ExAC: 14:88400367 T / G
• gnomAD v2: 14-88400367-T-G
• gnomAD v3: 14-87934023-T-G
• gnomAD v4: 14-87934023-T-G
• MyVariant Identifiers: chr14:g.88400367T>G (hg19) ; chr14:g.87934023T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934023T>G , CM000676.2:g.87934023T>G	GRCh38
NC_000014.8:g.88400367T>G , CM000676.1:g.88400367T>G	GRCh37
NC_000014.7:g.87470120T>G	NCBI36
NG_011853.2:g.64541A>C
NG_011853.3:g.64541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*709A>C MANE Select	ENSP00000261304.2:n.*709A>C
ENST00000261304.6:c.*709A>C	ENSP00000261304.2:n.*709A>C
ENST00000544807.6:c.1744-24A>C	ENSP00000437513.2:n.1744-24A>C
ENST00000555000.5:c.1279-24A>C	ENSP00000450472.1:n.1279-24A>C
NM_000153.3:c.*709A>C	NP_000144.2:n.*709A>C
NM_001201401.1:c.*709A>C	NP_001188330.1:n.*709A>C
NM_001201402.1:c.*709A>C	NP_001188331.1:n.*709A>C
XM_011536618.1:c.*709A>C	XP_011534920.1:n.*709A>C
XM_011536618.2:c.*709A>C	XP_011534920.1:n.*709A>C
NM_000153.4:c.*709A>C MANE Select	NP_000144.2:n.*709A>C
NM_001201401.2:c.*709A>C	NP_001188330.1:n.*709A>C
NM_001201402.2:c.*709A>C	NP_001188331.1:n.*709A>C