Canonical Allele Identifier: CA7297049

Gene: GALC

Linked Data

• ClinVar Variation Id: 558781
• ClinVar RCV Id: RCV000675257
• dbSNP Id: rs74076317
• ExAC: 14:88416166 A / G
• gnomAD v2: 14-88416166-A-G
• gnomAD v3: 14-87949822-A-G
• gnomAD v4: 14-87949822-A-G
• MyVariant Identifiers: chr14:g.88416166A>G (hg19) ; chr14:g.87949822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949822A>G , CM000676.2:g.87949822A>G	GRCh38
NC_000014.8:g.88416166A>G , CM000676.1:g.88416166A>G	GRCh37
NC_000014.7:g.87485919A>G	NCBI36
NG_011853.2:g.48742T>C
NG_011853.3:g.48742T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1338+23T>C MANE Select	ENSP00000261304.2:n.1338+23T>C
ENST00000261304.6:c.1338+23T>C	ENSP00000261304.2:n.1338+23T>C
ENST00000393568.8:c.1269+23T>C	ENSP00000377198.4:n.1269+23T>C
ENST00000393569.6:c.1260+23T>C	ENSP00000377199.2:n.1260+23T>C
ENST00000544807.6:c.1170+23T>C	ENSP00000437513.2:n.1170+23T>C
ENST00000555000.5:c.705+23T>C	ENSP00000450472.1:n.705+23T>C
ENST00000555179.1:c.55+23T>C
ENST00000557316.5:c.*736+23T>C	ENSP00000452314.1:n.*736+23T>C
NM_000153.3:c.1338+23T>C	NP_000144.2:n.1338+23T>C
NM_001201401.1:c.1269+23T>C	NP_001188330.1:n.1269+23T>C
NM_001201402.1:c.1260+23T>C	NP_001188331.1:n.1260+23T>C
XM_011536618.1:c.1170+23T>C	XP_011534920.1:n.1170+23T>C
XM_011536618.2:c.1170+23T>C	XP_011534920.1:n.1170+23T>C
NM_000153.4:c.1338+23T>C MANE Select	NP_000144.2:n.1338+23T>C
NM_001201401.2:c.1269+23T>C	NP_001188330.1:n.1269+23T>C
NM_001201402.2:c.1260+23T>C	NP_001188331.1:n.1260+23T>C