Canonical Allele Identifier: CA709656427

Gene: GALC

Linked Data

• dbSNP Id: rs1467197614
• gnomAD v3: 14-87933203-C-T
• gnomAD v4: 14-87933203-C-T
• MyVariant Identifiers: chr14:g.88399547C>T (hg19) ; chr14:g.87933203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933203C>T , CM000676.2:g.87933203C>T	GRCh38
NC_000014.8:g.88399547C>T , CM000676.1:g.88399547C>T	GRCh37
NC_000014.7:g.87469300C>T	NCBI36
NG_011853.2:g.65361G>A
NG_011853.3:g.65361G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1529G>A MANE Select	ENSP00000261304.2:n.*1529G>A
ENST00000261304.6:c.*1529G>A	ENSP00000261304.2:n.*1529G>A
ENST00000555000.5:c.*74+696G>A	ENSP00000450472.1:n.*74+696G>A
NM_000153.3:c.*1529G>A	NP_000144.2:n.*1529G>A
NM_001201401.1:c.*1529G>A	NP_001188330.1:n.*1529G>A
NM_001201402.1:c.*1529G>A	NP_001188331.1:n.*1529G>A
XM_011536618.1:c.*1529G>A	XP_011534920.1:n.*1529G>A
XM_011536618.2:c.*1529G>A	XP_011534920.1:n.*1529G>A
NM_000153.4:c.*1529G>A MANE Select	NP_000144.2:n.*1529G>A
NM_001201401.2:c.*1529G>A	NP_001188330.1:n.*1529G>A
NM_001201402.2:c.*1529G>A	NP_001188331.1:n.*1529G>A