Canonical Allele Identifier: CA2153346457

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968393C= , CM000676.2:g.87968393C=	GRCh38
NC_000014.8:g.88434737C= , CM000676.1:g.88434737C=	GRCh37
NC_000014.7:g.87504490C=	NCBI36
NG_011853.2:g.30171G=
NG_011853.3:g.30171G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.850G= MANE Select	NP_000144.2:p.Gly284=
ENST00000261304.7:c.850G= MANE Select	ENSP00000261304.2:p.Gly284=
NM_000153.3:c.850G=	NP_000144.2:p.Gly284=
NM_001201401.1:c.781G=	NP_001188330.1:p.Gly261=
NM_001201401.2:c.781G=	NP_001188330.1:p.Gly261=
NM_001201402.1:c.772G=	NP_001188331.1:p.Gly258=
NM_001201402.2:c.772G=	NP_001188331.1:p.Gly258=
ENST00000261304.6:c.850G=	ENSP00000261304.2:p.Gly284=
ENST00000393568.8:c.781G=	ENSP00000377198.4:p.Gly261=
ENST00000393569.6:c.772G=	ENSP00000377199.2:p.Gly258=
ENST00000474294.6:n.840G=
ENST00000477716.3:n.605G=
ENST00000544807.6:c.682G=	ENSP00000437513.2:p.Gly228=
ENST00000555000.5:c.217G=	ENSP00000450472.1:p.Gly73=
ENST00000557316.5:c.*248G=	ENSP00000452314.1:n.*248G=
ENST00000622264.4:c.840G=
XM_011536618.1:c.682G=	XP_011534920.1:p.Gly228=
XM_011536618.2:c.682G=	XP_011534920.1:p.Gly228=