Canonical Allele Identifier: CA7296815

Gene: GALC

Linked Data

• dbSNP Id: rs746502573
• ExAC: 14:88401040 GA / G
• gnomAD v2: 14-88401040-GA-G
• gnomAD v4: 14-87934696-GA-G
• MyVariant Identifiers: chr14:g.88401041del (hg19) ; chr14:g.87934697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934700del , CM000676.2:g.87934700del	GRCh38
NC_000014.8:g.88401044del , CM000676.1:g.88401044del	GRCh37
NC_000014.7:g.87470797del	NCBI36
NG_011853.2:g.63867del
NG_011853.3:g.63867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*35del MANE Select	ENSP00000261304.2:n.*35del
ENST00000261304.6:c.*35del	ENSP00000261304.2:n.*35del
ENST00000393568.8:c.*35del	ENSP00000377198.4:n.*35del
ENST00000393569.6:c.*35del	ENSP00000377199.2:n.*35del
ENST00000544807.6:c.1744-698del	ENSP00000437513.2:n.1744-698del
ENST00000555000.5:c.1279-698del	ENSP00000450472.1:n.1279-698del
NM_000153.3:c.*35del	NP_000144.2:n.*35del
NM_001201401.1:c.*35del	NP_001188330.1:n.*35del
NM_001201402.1:c.*35del	NP_001188331.1:n.*35del
XM_011536618.1:c.*35del	XP_011534920.1:n.*35del
XM_011536618.2:c.*35del	XP_011534920.1:n.*35del
NM_000153.4:c.*35del MANE Select	NP_000144.2:n.*35del
NM_001201401.2:c.*35del	NP_001188330.1:n.*35del
NM_001201402.2:c.*35del	NP_001188331.1:n.*35del