Canonical Allele Identifier: CA615269184

Gene: GALC

Linked Data

• dbSNP Id: rs1207009314
• gnomAD v2: 14-88401026-C-CA
• gnomAD v4: 14-87934682-C-CA
• MyVariant Identifiers: chr14:g.88401026_88401027insA (hg19) ; chr14:g.87934682_87934683insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934687dup , CM000676.2:g.87934687dup	GRCh38
NC_000014.8:g.88401031dup , CM000676.1:g.88401031dup	GRCh37
NC_000014.7:g.87470784dup	NCBI36
NG_011853.2:g.63881dup
NG_011853.3:g.63881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*49dup MANE Select	ENSP00000261304.2:n.*49dup
ENST00000261304.6:c.*49dup	ENSP00000261304.2:n.*49dup
ENST00000393568.8:c.*49dup	ENSP00000377198.4:n.*49dup
ENST00000393569.6:c.*49dup	ENSP00000377199.2:n.*49dup
ENST00000544807.6:c.1744-684dup	ENSP00000437513.2:n.1744-684dup
ENST00000555000.5:c.1279-684dup	ENSP00000450472.1:n.1279-684dup
NM_000153.3:c.*49dup	NP_000144.2:n.*49dup
NM_001201401.1:c.*49dup	NP_001188330.1:n.*49dup
NM_001201402.1:c.*49dup	NP_001188331.1:n.*49dup
XM_011536618.1:c.*49dup	XP_011534920.1:n.*49dup
XM_011536618.2:c.*49dup	XP_011534920.1:n.*49dup
NM_000153.4:c.*49dup MANE Select	NP_000144.2:n.*49dup
NM_001201401.2:c.*49dup	NP_001188330.1:n.*49dup
NM_001201402.2:c.*49dup	NP_001188331.1:n.*49dup