Canonical Allele Identifier: CA7296990

Gene: GALC

Linked Data

• ClinVar Variation Id: 2988972
• ClinVar RCV Id: RCV003847139
• dbSNP Id: rs771834033
• ExAC: 14:88412081 T / C
• gnomAD v2: 14-88412081-T-C
• gnomAD v4: 14-87945737-T-C
• MyVariant Identifiers: chr14:g.88412081T>C (hg19) ; chr14:g.87945737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945737T>C , CM000676.2:g.87945737T>C	GRCh38
NC_000014.8:g.88412081T>C , CM000676.1:g.88412081T>C	GRCh37
NC_000014.7:g.87481834T>C	NCBI36
NG_011853.2:g.52827A>G
NG_011853.3:g.52827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1490-4A>G MANE Select	ENSP00000261304.2:n.1490-4A>G
ENST00000261304.6:c.1490-4A>G	ENSP00000261304.2:n.1490-4A>G
ENST00000393568.8:c.1421-4A>G	ENSP00000377198.4:n.1421-4A>G
ENST00000393569.6:c.1412-4A>G	ENSP00000377199.2:n.1412-4A>G
ENST00000544807.6:c.1322-4A>G	ENSP00000437513.2:n.1322-4A>G
ENST00000555000.5:c.857-4A>G	ENSP00000450472.1:n.857-4A>G
ENST00000555179.1:c.206+1991A>G
ENST00000557316.5:c.*888-4A>G	ENSP00000452314.1:n.*888-4A>G
NM_000153.3:c.1490-4A>G	NP_000144.2:n.1490-4A>G
NM_001201401.1:c.1421-4A>G	NP_001188330.1:n.1421-4A>G
NM_001201402.1:c.1412-4A>G	NP_001188331.1:n.1412-4A>G
XM_011536618.1:c.1322-4A>G	XP_011534920.1:n.1322-4A>G
XM_011536618.2:c.1322-4A>G	XP_011534920.1:n.1322-4A>G
NM_000153.4:c.1490-4A>G MANE Select	NP_000144.2:n.1490-4A>G
NM_001201401.2:c.1421-4A>G	NP_001188330.1:n.1421-4A>G
NM_001201402.2:c.1412-4A>G	NP_001188331.1:n.1412-4A>G