Canonical Allele Identifier: CA3206973078

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965526C= , CM000676.2:g.87965526C=	GRCh38
NC_000014.8:g.88431870C= , CM000676.1:g.88431870C=	GRCh37
NC_000014.7:g.87501623C=	NCBI36
NG_011853.2:g.33038G=
NG_011853.3:g.33038G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1012G= MANE Select	NP_000144.2:p.Glu338=
ENST00000261304.7:c.1012G= MANE Select	ENSP00000261304.2:p.Glu338=
NM_000153.3:c.1012G=	NP_000144.2:p.Glu338=
NM_001201401.1:c.943G=	NP_001188330.1:p.Glu315=
NM_001201401.2:c.943G=	NP_001188330.1:p.Glu315=
NM_001201402.1:c.934G=	NP_001188331.1:p.Glu312=
NM_001201402.2:c.934G=	NP_001188331.1:p.Glu312=
ENST00000261304.6:c.1012G=	ENSP00000261304.2:p.Glu338=
ENST00000393568.8:c.943G=	ENSP00000377198.4:p.Glu315=
ENST00000393569.6:c.934G=	ENSP00000377199.2:p.Glu312=
ENST00000474294.6:n.1002G=
ENST00000544807.6:c.844G=	ENSP00000437513.2:p.Glu282=
ENST00000555000.5:c.379G=	ENSP00000450472.1:p.Glu127=
ENST00000557316.5:c.*410G=	ENSP00000452314.1:n.*410G=
ENST00000557520.1:n.98G=
ENST00000622264.4:c.1002G=
XM_011536618.1:c.844G=	XP_011534920.1:p.Glu282=
XM_011536618.2:c.844G=	XP_011534920.1:p.Glu282=