Canonical Allele Identifier: CA2153385647

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984487C= , CM000676.2:g.87984487C=	GRCh38
NC_000014.8:g.88450831C= , CM000676.1:g.88450831C=	GRCh37
NC_000014.7:g.87520584C=	NCBI36
NG_011853.2:g.14077G=
NG_011853.3:g.14077G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.489G= MANE Select	ENSP00000261304.2:p.Trp163=
ENST00000261304.6:c.489G=	ENSP00000261304.2:p.Trp163=
ENST00000393568.8:c.420G=	ENSP00000377198.4:p.Trp140=
ENST00000393569.6:c.411G=	ENSP00000377199.2:p.Trp137=
ENST00000474294.6:n.479G=
ENST00000544807.6:c.321G=	ENSP00000437513.2:p.Trp107=
ENST00000554372.5:c.*238G=	ENSP00000451884.1:n.*238G=
ENST00000554916.5:n.368G=
ENST00000556261.5:n.190G=
ENST00000556879.5:c.549G=	ENSP00000452208.1:n.549G=
ENST00000557316.5:c.489G=	ENSP00000452314.1:p.Trp163=
ENST00000622264.4:c.479G=
NM_000153.3:c.489G=	NP_000144.2:p.Trp163=
NM_001201401.1:c.420G=	NP_001188330.1:p.Trp140=
NM_001201402.1:c.411G=	NP_001188331.1:p.Trp137=
XM_011536618.1:c.321G=	XP_011534920.1:p.Trp107=
XM_011536618.2:c.321G=	XP_011534920.1:p.Trp107=
NM_000153.4:c.489G= MANE Select	NP_000144.2:p.Trp163=
NM_001201401.2:c.420G=	NP_001188330.1:p.Trp140=
NM_001201402.2:c.411G=	NP_001188331.1:p.Trp137=