Canonical Allele Identifier: CA2153344241

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963392C= , CM000676.2:g.87963392C=	GRCh38
NC_000014.8:g.88429736C= , CM000676.1:g.88429736C=	GRCh37
NC_000014.7:g.87499489C=	NCBI36
NG_011853.2:g.35172G=
NG_011853.3:g.35172G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1153G= MANE Select	NP_000144.2:p.Glu385=
ENST00000261304.7:c.1153G= MANE Select	ENSP00000261304.2:p.Glu385=
NM_000153.3:c.1153G=	NP_000144.2:p.Glu385=
NM_001201401.1:c.1084G=	NP_001188330.1:p.Glu362=
NM_001201401.2:c.1084G=	NP_001188330.1:p.Glu362=
NM_001201402.1:c.1075G=	NP_001188331.1:p.Glu359=
NM_001201402.2:c.1075G=	NP_001188331.1:p.Glu359=
ENST00000261304.6:c.1153G=	ENSP00000261304.2:p.Glu385=
ENST00000393568.8:c.1084G=	ENSP00000377198.4:p.Glu362=
ENST00000393569.6:c.1075G=	ENSP00000377199.2:p.Glu359=
ENST00000474294.6:n.1143G=
ENST00000544807.6:c.985G=	ENSP00000437513.2:p.Glu329=
ENST00000555000.5:c.520G=	ENSP00000450472.1:p.Glu174=
ENST00000557316.5:c.*551G=	ENSP00000452314.1:n.*551G=
ENST00000557520.1:n.239G=
ENST00000622264.4:c.1143G=
XM_011536618.1:c.985G=	XP_011534920.1:p.Glu329=
XM_011536618.2:c.985G=	XP_011534920.1:p.Glu329=