Canonical Allele Identifier: CA2153358769

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947750G= , CM000676.2:g.87947750G=	GRCh38
NC_000014.8:g.88414094G= , CM000676.1:g.88414094G=	GRCh37
NC_000014.7:g.87483847G=	NCBI36
NG_011853.2:g.50814C=
NG_011853.3:g.50814C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1467C= MANE Select	ENSP00000261304.2:p.Thr489=
ENST00000261304.6:c.1467C=	ENSP00000261304.2:p.Thr489=
ENST00000393568.8:c.1398C=	ENSP00000377198.4:p.Thr466=
ENST00000393569.6:c.1389C=	ENSP00000377199.2:p.Thr463=
ENST00000544807.6:c.1299C=	ENSP00000437513.2:p.Thr433=
ENST00000555000.5:c.834C=	ENSP00000450472.1:p.Thr278=
ENST00000555179.1:c.184C=
ENST00000557316.5:c.*865C=	ENSP00000452314.1:n.*865C=
NM_000153.3:c.1467C=	NP_000144.2:p.Thr489=
NM_001201401.1:c.1398C=	NP_001188330.1:p.Thr466=
NM_001201402.1:c.1389C=	NP_001188331.1:p.Thr463=
XM_011536618.1:c.1299C=	XP_011534920.1:p.Thr433=
XM_011536618.2:c.1299C=	XP_011534920.1:p.Thr433=
NM_000153.4:c.1467C= MANE Select	NP_000144.2:p.Thr489=
NM_001201401.2:c.1398C=	NP_001188330.1:p.Thr466=
NM_001201402.2:c.1389C=	NP_001188331.1:p.Thr463=