Canonical Allele Identifier: CA615270931

Gene: GALC

Linked Data

• dbSNP Id: rs1277132303
• gnomAD v2: 14-88413722-A-AT
• gnomAD v3: 14-87947378-A-AT
• gnomAD v4: 14-87947378-A-AT
• MyVariant Identifiers: chr14:g.88413722_88413723insT (hg19) ; chr14:g.87947378_87947379insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947379dup , CM000676.2:g.87947379dup	GRCh38
NC_000014.8:g.88413723dup , CM000676.1:g.88413723dup	GRCh37
NC_000014.7:g.87483476dup	NCBI36
NG_011853.2:g.51185dup
NG_011853.3:g.51185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+349dup MANE Select	ENSP00000261304.2:n.1489+349dup
ENST00000261304.6:c.1489+349dup	ENSP00000261304.2:n.1489+349dup
ENST00000393568.8:c.1420+349dup	ENSP00000377198.4:n.1420+349dup
ENST00000393569.6:c.1411+349dup	ENSP00000377199.2:n.1411+349dup
ENST00000544807.6:c.1321+349dup	ENSP00000437513.2:n.1321+349dup
ENST00000555000.5:c.856+349dup	ENSP00000450472.1:n.856+349dup
ENST00000555179.1:c.206+349dup
ENST00000557316.5:c.*887+349dup	ENSP00000452314.1:n.*887+349dup
NM_000153.3:c.1489+349dup	NP_000144.2:n.1489+349dup
NM_001201401.1:c.1420+349dup	NP_001188330.1:n.1420+349dup
NM_001201402.1:c.1411+349dup	NP_001188331.1:n.1411+349dup
XM_011536618.1:c.1321+349dup	XP_011534920.1:n.1321+349dup
XM_011536618.2:c.1321+349dup	XP_011534920.1:n.1321+349dup
NM_000153.4:c.1489+349dup MANE Select	NP_000144.2:n.1489+349dup
NM_001201401.2:c.1420+349dup	NP_001188330.1:n.1420+349dup
NM_001201402.2:c.1411+349dup	NP_001188331.1:n.1411+349dup