Canonical Allele Identifier: CA390745944

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411897C>T (hg19) ; chr14:g.87945553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945553C>T , CM000676.2:g.87945553C>T	GRCh38
NC_000014.8:g.88411897C>T , CM000676.1:g.88411897C>T	GRCh37
NC_000014.7:g.87481650C>T	NCBI36
NG_011853.2:g.53011G>A
NG_011853.3:g.53011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1670G>A MANE Select	ENSP00000261304.2:p.Trp557Ter
ENST00000261304.6:c.1670G>A	ENSP00000261304.2:p.Trp557Ter
ENST00000393568.8:c.1601G>A	ENSP00000377198.4:p.Trp534Ter
ENST00000393569.6:c.1592G>A	ENSP00000377199.2:p.Trp531Ter
ENST00000544807.6:c.1502G>A	ENSP00000437513.2:p.Trp501Ter
ENST00000555000.5:c.1037G>A	ENSP00000450472.1:p.Trp346Ter
ENST00000555179.1:c.206+2175G>A
ENST00000557316.5:c.*1068G>A	ENSP00000452314.1:n.*1068G>A
NM_000153.3:c.1670G>A	NP_000144.2:p.Trp557Ter
NM_001201401.1:c.1601G>A	NP_001188330.1:p.Trp534Ter
NM_001201402.1:c.1592G>A	NP_001188331.1:p.Trp531Ter
XM_011536618.1:c.1502G>A	XP_011534920.1:p.Trp501Ter
XM_011536618.2:c.1502G>A	XP_011534920.1:p.Trp501Ter
NM_000153.4:c.1670G>A MANE Select	NP_000144.2:p.Trp557Ter
NM_001201401.2:c.1601G>A	NP_001188330.1:p.Trp534Ter
NM_001201402.2:c.1592G>A	NP_001188331.1:p.Trp531Ter