Canonical Allele Identifier: CA709656423

Gene: GALC

Linked Data

• dbSNP Id: rs1339207049
• gnomAD v3: 14-87933181-CA-C
• gnomAD v4: 14-87933181-CA-C
• MyVariant Identifiers: chr14:g.88399526del (hg19) ; chr14:g.87933182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933182del , CM000676.2:g.87933182del	GRCh38
NC_000014.8:g.88399526del , CM000676.1:g.88399526del	GRCh37
NC_000014.7:g.87469279del	NCBI36
NG_011853.2:g.65382del
NG_011853.3:g.65382del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1550del MANE Select	ENSP00000261304.2:n.*1550del
ENST00000261304.6:c.*1550del	ENSP00000261304.2:n.*1550del
ENST00000555000.5:c.*74+717del	ENSP00000450472.1:n.*74+717del
NM_000153.3:c.*1550del	NP_000144.2:n.*1550del
NM_001201401.1:c.*1550del	NP_001188330.1:n.*1550del
NM_001201402.1:c.*1550del	NP_001188331.1:n.*1550del
XM_011536618.1:c.*1550del	XP_011534920.1:n.*1550del
XM_011536618.2:c.*1550del	XP_011534920.1:n.*1550del
NM_000153.4:c.*1550del MANE Select	NP_000144.2:n.*1550del
NM_001201401.2:c.*1550del	NP_001188330.1:n.*1550del
NM_001201402.2:c.*1550del	NP_001188331.1:n.*1550del