Canonical Allele Identifier: CA965690765

Gene: GALC

Linked Data

• dbSNP Id: rs1884438327
• gnomAD v3: 14-87933291-G-GA
• gnomAD v4: 14-87933291-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933293dup , CM000676.2:g.87933293dup	GRCh38
NC_000014.8:g.88399637dup , CM000676.1:g.88399637dup	GRCh37
NC_000014.7:g.87469390dup	NCBI36
NG_011853.2:g.65272dup
NG_011853.3:g.65272dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1440dup MANE Select	ENSP00000261304.2:n.*1440dup
ENST00000261304.6:c.*1440dup	ENSP00000261304.2:n.*1440dup
ENST00000555000.5:c.*74+607dup	ENSP00000450472.1:n.*74+607dup
NM_000153.3:c.*1440dup	NP_000144.2:n.*1440dup
NM_001201401.1:c.*1440dup	NP_001188330.1:n.*1440dup
NM_001201402.1:c.*1440dup	NP_001188331.1:n.*1440dup
XM_011536618.1:c.*1440dup	XP_011534920.1:n.*1440dup
XM_011536618.2:c.*1440dup	XP_011534920.1:n.*1440dup
NM_000153.4:c.*1440dup MANE Select	NP_000144.2:n.*1440dup
NM_001201401.2:c.*1440dup	NP_001188330.1:n.*1440dup
NM_001201402.2:c.*1440dup	NP_001188331.1:n.*1440dup