Canonical Allele Identifier: CA2153384569

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982236T= , CM000676.2:g.87982236T=	GRCh38
NC_000014.8:g.88448580T= , CM000676.1:g.88448580T=	GRCh37
NC_000014.7:g.87518333T=	NCBI36
NG_011853.2:g.16328A=
NG_011853.3:g.16328A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.590A= MANE Select	ENSP00000261304.2:p.Asn197=
ENST00000261304.6:c.590A=	ENSP00000261304.2:p.Asn197=
ENST00000393568.8:c.521A=	ENSP00000377198.4:p.Asn174=
ENST00000393569.6:c.512A=	ENSP00000377199.2:p.Asn171=
ENST00000474294.6:n.580A=
ENST00000544807.6:c.422A=	ENSP00000437513.2:p.Asn141=
ENST00000554372.5:c.*339A=	ENSP00000451884.1:n.*339A=
ENST00000554916.5:n.469A=
ENST00000556261.5:n.291A=
ENST00000557316.5:c.590A=	ENSP00000452314.1:p.Asn197=
ENST00000622264.4:c.580A=
NM_000153.3:c.590A=	NP_000144.2:p.Asn197=
NM_001201401.1:c.521A=	NP_001188330.1:p.Asn174=
NM_001201402.1:c.512A=	NP_001188331.1:p.Asn171=
XM_011536618.1:c.422A=	XP_011534920.1:p.Asn141=
XM_011536618.2:c.422A=	XP_011534920.1:p.Asn141=
NM_000153.4:c.590A= MANE Select	NP_000144.2:p.Asn197=
NM_001201401.2:c.521A=	NP_001188330.1:p.Asn174=
NM_001201402.2:c.512A=	NP_001188331.1:p.Asn171=