Canonical Allele Identifier: CA2730142090

Gene: GALC

Linked Data

• dbSNP Id: rs2139951704

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945734_87945735insAACATTGAAATCATCCT , CM000676.2:g.87945734_87945735insAACATTGAAATCATCCT	GRCh38
NC_000014.8:g.88412078_88412079insAACATTGAAATCATCCT , CM000676.1:g.88412078_88412079insAACATTGAAATCATCCT	GRCh37
NC_000014.7:g.87481831_87481832insAACATTGAAATCATCCT	NCBI36
NG_011853.2:g.52829_52830insAGGATGATTTCAATGTT
NG_011853.3:g.52829_52830insAGGATGATTTCAATGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1490-2_1490-1insAGGATGATTTCAATGTT MANE Select	ENSP00000261304.2:n.1490-2_1490-1insAGGATGATTTCAATGTT
ENST00000261304.6:c.1490-2_1490-1insAGGATGATTTCAATGTT	ENSP00000261304.2:n.1490-2_1490-1insAGGATGATTTCAATGTT
ENST00000393568.8:c.1421-2_1421-1insAGGATGATTTCAATGTT	ENSP00000377198.4:n.1421-2_1421-1insAGGATGATTTCAATGTT
ENST00000393569.6:c.1412-2_1412-1insAGGATGATTTCAATGTT	ENSP00000377199.2:n.1412-2_1412-1insAGGATGATTTCAATGTT
ENST00000544807.6:c.1322-2_1322-1insAGGATGATTTCAATGTT	ENSP00000437513.2:n.1322-2_1322-1insAGGATGATTTCAATGTT
ENST00000555000.5:c.857-2_857-1insAGGATGATTTCAATGTT	ENSP00000450472.1:n.857-2_857-1insAGGATGATTTCAATGTT
ENST00000555179.1:c.206+1993_206+1994insAGGATGATTTCAATGTT
ENST00000557316.5:c.*888-2_*888-1insAGGATGATTTCAATGTT	ENSP00000452314.1:n.*888-2_*888-1insAGGATGATTTCAATGTT
NM_000153.3:c.1490-2_1490-1insAGGATGATTTCAATGTT	NP_000144.2:n.1490-2_1490-1insAGGATGATTTCAATGTT
NM_001201401.1:c.1421-2_1421-1insAGGATGATTTCAATGTT	NP_001188330.1:n.1421-2_1421-1insAGGATGATTTCAATGTT
NM_001201402.1:c.1412-2_1412-1insAGGATGATTTCAATGTT	NP_001188331.1:n.1412-2_1412-1insAGGATGATTTCAATGTT
XM_011536618.1:c.1322-2_1322-1insAGGATGATTTCAATGTT	XP_011534920.1:n.1322-2_1322-1insAGGATGATTTCAATGTT
XM_011536618.2:c.1322-2_1322-1insAGGATGATTTCAATGTT	XP_011534920.1:n.1322-2_1322-1insAGGATGATTTCAATGTT
NM_000153.4:c.1490-2_1490-1insAGGATGATTTCAATGTT MANE Select	NP_000144.2:n.1490-2_1490-1insAGGATGATTTCAATGTT
NM_001201401.2:c.1421-2_1421-1insAGGATGATTTCAATGTT	NP_001188330.1:n.1421-2_1421-1insAGGATGATTTCAATGTT
NM_001201402.2:c.1412-2_1412-1insAGGATGATTTCAATGTT	NP_001188331.1:n.1412-2_1412-1insAGGATGATTTCAATGTT