Canonical Allele Identifier: CA390749368

Gene: GALC

Linked Data

• COSMIC: COSM6141578 ; COSM6141579
• MyVariant Identifiers: chr14:g.88442730C>A (hg19) ; chr14:g.87976386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976386C>A , CM000676.2:g.87976386C>A	GRCh38
NC_000014.8:g.88442730C>A , CM000676.1:g.88442730C>A	GRCh37
NC_000014.7:g.87512483C>A	NCBI36
NG_011853.2:g.22178G>T
NG_011853.3:g.22178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.724G>T MANE Select	ENSP00000261304.2:p.Glu242Ter
ENST00000261304.6:c.724G>T	ENSP00000261304.2:p.Glu242Ter
ENST00000393568.8:c.655G>T	ENSP00000377198.4:p.Glu219Ter
ENST00000393569.6:c.646G>T	ENSP00000377199.2:p.Glu216Ter
ENST00000474294.6:n.714G>T
ENST00000477716.3:n.479G>T
ENST00000544807.6:c.556G>T	ENSP00000437513.2:p.Glu186Ter
ENST00000554916.5:n.603G>T
ENST00000555000.5:c.91G>T	ENSP00000450472.1:p.Glu31Ter
ENST00000557316.5:c.*122G>T	ENSP00000452314.1:n.*122G>T
ENST00000622264.4:c.714G>T
NM_000153.3:c.724G>T	NP_000144.2:p.Glu242Ter
NM_001201401.1:c.655G>T	NP_001188330.1:p.Glu219Ter
NM_001201402.1:c.646G>T	NP_001188331.1:p.Glu216Ter
XM_011536618.1:c.556G>T	XP_011534920.1:p.Glu186Ter
XM_011536618.2:c.556G>T	XP_011534920.1:p.Glu186Ter
NM_000153.4:c.724G>T MANE Select	NP_000144.2:p.Glu242Ter
NM_001201401.2:c.655G>T	NP_001188330.1:p.Glu219Ter
NM_001201402.2:c.646G>T	NP_001188331.1:p.Glu216Ter