Canonical Allele Identifier: CA390749586

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442778T>A (hg19) ; chr14:g.87976434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976434T>A , CM000676.2:g.87976434T>A	GRCh38
NC_000014.8:g.88442778T>A , CM000676.1:g.88442778T>A	GRCh37
NC_000014.7:g.87512531T>A	NCBI36
NG_011853.2:g.22130A>T
NG_011853.3:g.22130A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.676A>T MANE Select	ENSP00000261304.2:p.Ser226Cys
ENST00000261304.6:c.676A>T	ENSP00000261304.2:p.Ser226Cys
ENST00000393568.8:c.607A>T	ENSP00000377198.4:p.Ser203Cys
ENST00000393569.6:c.598A>T	ENSP00000377199.2:p.Ser200Cys
ENST00000474294.6:n.666A>T
ENST00000477716.3:n.431A>T
ENST00000544807.6:c.508A>T	ENSP00000437513.2:p.Ser170Cys
ENST00000554916.5:n.555A>T
ENST00000555000.5:c.43A>T	ENSP00000450472.1:p.Ser15Cys
ENST00000557316.5:c.*74A>T	ENSP00000452314.1:n.*74A>T
ENST00000622264.4:c.666A>T
NM_000153.3:c.676A>T	NP_000144.2:p.Ser226Cys
NM_001201401.1:c.607A>T	NP_001188330.1:p.Ser203Cys
NM_001201402.1:c.598A>T	NP_001188331.1:p.Ser200Cys
XM_011536618.1:c.508A>T	XP_011534920.1:p.Ser170Cys
XM_011536618.2:c.508A>T	XP_011534920.1:p.Ser170Cys
NM_000153.4:c.676A>T MANE Select	NP_000144.2:p.Ser226Cys
NM_001201401.2:c.607A>T	NP_001188330.1:p.Ser203Cys
NM_001201402.2:c.598A>T	NP_001188331.1:p.Ser200Cys