Canonical Allele Identifier: CA7297329

Gene: GALC

Linked Data

• ClinVar Variation Id: 551773
• ClinVar RCV Id: RCV000666914
• dbSNP Id: rs757016859
• ExAC: 14:88450733 C / T
• gnomAD v2: 14-88450733-C-T
• gnomAD v3: 14-87984389-C-T
• gnomAD v4: 14-87984389-C-T
• MyVariant Identifiers: chr14:g.88450733C>T (hg19) ; chr14:g.87984389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984389C>T , CM000676.2:g.87984389C>T	GRCh38
NC_000014.8:g.88450733C>T , CM000676.1:g.88450733C>T	GRCh37
NC_000014.7:g.87520486C>T	NCBI36
NG_011853.2:g.14175G>A
NG_011853.3:g.14175G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.582+5G>A MANE Select	ENSP00000261304.2:n.582+5G>A
ENST00000261304.6:c.582+5G>A	ENSP00000261304.2:n.582+5G>A
ENST00000393568.8:c.513+5G>A	ENSP00000377198.4:n.513+5G>A
ENST00000393569.6:c.504+5G>A	ENSP00000377199.2:n.504+5G>A
ENST00000474294.6:n.572+5G>A
ENST00000544807.6:c.414+5G>A	ENSP00000437513.2:n.414+5G>A
ENST00000554372.5:c.*331+5G>A	ENSP00000451884.1:n.*331+5G>A
ENST00000554916.5:n.461+5G>A
ENST00000556261.5:n.283+5G>A
ENST00000557316.5:c.582+5G>A	ENSP00000452314.1:n.582+5G>A
ENST00000622264.4:c.572+5G>A
NM_000153.3:c.582+5G>A	NP_000144.2:n.582+5G>A
NM_001201401.1:c.513+5G>A	NP_001188330.1:n.513+5G>A
NM_001201402.1:c.504+5G>A	NP_001188331.1:n.504+5G>A
XM_011536618.1:c.414+5G>A	XP_011534920.1:n.414+5G>A
XM_011536618.2:c.414+5G>A	XP_011534920.1:n.414+5G>A
NM_000153.4:c.582+5G>A MANE Select	NP_000144.2:n.582+5G>A
NM_001201401.2:c.513+5G>A	NP_001188330.1:n.513+5G>A
NM_001201402.2:c.504+5G>A	NP_001188331.1:n.504+5G>A