Canonical Allele Identifier: CA264710584

Gene: GALC

Linked Data

• dbSNP Id: rs934763040
• gnomAD v2: 14-88448377-A-T
• gnomAD v3: 14-87982033-A-T
• gnomAD v4: 14-87982033-A-T
• MyVariant Identifiers: chr14:g.88448377A>T (hg19) ; chr14:g.87982033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982033A>T , CM000676.2:g.87982033A>T	GRCh38
NC_000014.8:g.88448377A>T , CM000676.1:g.88448377A>T	GRCh37
NC_000014.7:g.87518130A>T	NCBI36
NG_011853.2:g.16531T>A
NG_011853.3:g.16531T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+172T>A MANE Select	ENSP00000261304.2:n.621+172T>A
ENST00000261304.6:c.621+172T>A	ENSP00000261304.2:n.621+172T>A
ENST00000393568.8:c.552+172T>A	ENSP00000377198.4:n.552+172T>A
ENST00000393569.6:c.543+172T>A	ENSP00000377199.2:n.543+172T>A
ENST00000474294.6:n.611+172T>A
ENST00000544807.6:c.453+172T>A	ENSP00000437513.2:n.453+172T>A
ENST00000554916.5:n.500+172T>A
ENST00000556261.5:n.322+172T>A
ENST00000557316.5:c.621+172T>A	ENSP00000452314.1:n.621+172T>A
ENST00000622264.4:c.611+172T>A
NM_000153.3:c.621+172T>A	NP_000144.2:n.621+172T>A
NM_001201401.1:c.552+172T>A	NP_001188330.1:n.552+172T>A
NM_001201402.1:c.543+172T>A	NP_001188331.1:n.543+172T>A
XM_011536618.1:c.453+172T>A	XP_011534920.1:n.453+172T>A
XM_011536618.2:c.453+172T>A	XP_011534920.1:n.453+172T>A
NM_000153.4:c.621+172T>A MANE Select	NP_000144.2:n.621+172T>A
NM_001201401.2:c.552+172T>A	NP_001188330.1:n.552+172T>A
NM_001201402.2:c.543+172T>A	NP_001188331.1:n.543+172T>A