Canonical Allele Identifier: CA220407

Gene: GALC

Linked Data

• ClinVar Variation Id: 92492
• ClinVar RCV Id: RCV000173647
• dbSNP Id: rs398123175
• MyVariant Identifiers: chr14:g.88429726A>C (hg19) ; chr14:g.87963382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963382A>C , CM000676.2:g.87963382A>C	GRCh38
NC_000014.8:g.88429726A>C , CM000676.1:g.88429726A>C	GRCh37
NC_000014.7:g.87499479A>C	NCBI36
NG_011853.2:g.35182T>G
NG_011853.3:g.35182T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1161+2T>G MANE Select	ENSP00000261304.2:n.1161+2T>G
ENST00000261304.6:c.1161+2T>G	ENSP00000261304.2:n.1161+2T>G
ENST00000393568.8:c.1092+2T>G	ENSP00000377198.4:n.1092+2T>G
ENST00000393569.6:c.1083+2T>G	ENSP00000377199.2:n.1083+2T>G
ENST00000474294.6:n.1153T>G
ENST00000544807.6:c.993+2T>G	ENSP00000437513.2:n.993+2T>G
ENST00000555000.5:c.528+2T>G	ENSP00000450472.1:n.528+2T>G
ENST00000557316.5:c.*559+2T>G	ENSP00000452314.1:n.*559+2T>G
ENST00000557520.1:n.247+2T>G
ENST00000622264.4:c.1153T>G
NM_000153.3:c.1161+2T>G	NP_000144.2:n.1161+2T>G
NM_001201401.1:c.1092+2T>G	NP_001188330.1:n.1092+2T>G
NM_001201402.1:c.1083+2T>G	NP_001188331.1:n.1083+2T>G
XM_011536618.1:c.993+2T>G	XP_011534920.1:n.993+2T>G
XM_011536618.2:c.993+2T>G	XP_011534920.1:n.993+2T>G
NM_000153.4:c.1161+2T>G MANE Select	NP_000144.2:n.1161+2T>G
NM_001201401.2:c.1092+2T>G	NP_001188330.1:n.1092+2T>G
NM_001201402.2:c.1083+2T>G	NP_001188331.1:n.1083+2T>G