Canonical Allele Identifier: CA390753349

Gene: GALC

Linked Data

• ClinVar Variation Id: 1484516
• ClinVar RCV Id: RCV002038090
• dbSNP Id: rs2139759348
• MyVariant Identifiers: chr14:g.88454813C>T (hg19) ; chr14:g.87988469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988469C>T , CM000676.2:g.87988469C>T	GRCh38
NC_000014.8:g.88454813C>T , CM000676.1:g.88454813C>T	GRCh37
NC_000014.7:g.87524566C>T	NCBI36
NG_011853.2:g.10095G>A
NG_011853.3:g.10095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.250G>A MANE Select	ENSP00000261304.2:p.Asp84Asn
ENST00000261304.6:c.250G>A	ENSP00000261304.2:p.Asp84Asn
ENST00000393568.8:c.196-262G>A	ENSP00000377198.4:n.196-262G>A
ENST00000393569.6:c.172G>A	ENSP00000377199.2:p.Asp58Asn
ENST00000474294.6:n.240G>A
ENST00000544807.6:c.82G>A	ENSP00000437513.2:p.Asp28Asn
ENST00000554372.5:c.250G>A	ENSP00000451884.1:p.Asp84Asn
ENST00000554916.5:n.129G>A
ENST00000555956.1:n.55G>A
ENST00000556879.5:c.310G>A	ENSP00000452208.1:n.310G>A
ENST00000557316.5:c.250G>A	ENSP00000452314.1:p.Asp84Asn
ENST00000622264.4:c.240G>A
NM_000153.3:c.250G>A	NP_000144.2:p.Asp84Asn
NM_001201401.1:c.196-262G>A	NP_001188330.1:n.196-262G>A
NM_001201402.1:c.172G>A	NP_001188331.1:p.Asp58Asn
XM_011536618.1:c.82G>A	XP_011534920.1:p.Asp28Asn
XM_011536618.2:c.82G>A	XP_011534920.1:p.Asp28Asn
NM_000153.4:c.250G>A MANE Select	NP_000144.2:p.Asp84Asn
NM_001201401.2:c.196-262G>A	NP_001188330.1:n.196-262G>A
NM_001201402.2:c.172G>A	NP_001188331.1:p.Asp58Asn