Canonical Allele Identifier: CA390753345

Gene: GALC

Linked Data

• ClinVar Variation Id: 551097
• ClinVar RCV Id: RCV000666065 ; RCV003133490 ; RCV003479192
• dbSNP Id: rs1555383882
• gnomAD v3: 14-87988468-T-C
• gnomAD v4: 14-87988468-T-C
• MyVariant Identifiers: chr14:g.88454812T>C (hg19) ; chr14:g.87988468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988468T>C , CM000676.2:g.87988468T>C	GRCh38
NC_000014.8:g.88454812T>C , CM000676.1:g.88454812T>C	GRCh37
NC_000014.7:g.87524565T>C	NCBI36
NG_011853.2:g.10096A>G
NG_011853.3:g.10096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.251A>G MANE Select	ENSP00000261304.2:p.Asp84Gly
ENST00000261304.6:c.251A>G	ENSP00000261304.2:p.Asp84Gly
ENST00000393568.8:c.196-261A>G	ENSP00000377198.4:n.196-261A>G
ENST00000393569.6:c.173A>G	ENSP00000377199.2:p.Asp58Gly
ENST00000474294.6:n.241A>G
ENST00000544807.6:c.83A>G	ENSP00000437513.2:p.Asp28Gly
ENST00000554372.5:c.251A>G	ENSP00000451884.1:p.Asp84Gly
ENST00000554916.5:n.130A>G
ENST00000555956.1:n.56A>G
ENST00000556879.5:c.311A>G	ENSP00000452208.1:n.311A>G
ENST00000557316.5:c.251A>G	ENSP00000452314.1:p.Asp84Gly
ENST00000622264.4:c.241A>G
NM_000153.3:c.251A>G	NP_000144.2:p.Asp84Gly
NM_001201401.1:c.196-261A>G	NP_001188330.1:n.196-261A>G
NM_001201402.1:c.173A>G	NP_001188331.1:p.Asp58Gly
XM_011536618.1:c.83A>G	XP_011534920.1:p.Asp28Gly
XM_011536618.2:c.83A>G	XP_011534920.1:p.Asp28Gly
NM_000153.4:c.251A>G MANE Select	NP_000144.2:p.Asp84Gly
NM_001201401.2:c.196-261A>G	NP_001188330.1:n.196-261A>G
NM_001201402.2:c.173A>G	NP_001188331.1:p.Asp58Gly