Canonical Allele Identifier: CA2153381801

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976462T= , CM000676.2:g.87976462T=	GRCh38
NC_000014.8:g.88442806T= , CM000676.1:g.88442806T=	GRCh37
NC_000014.7:g.87512559T=	NCBI36
NG_011853.2:g.22102A=
NG_011853.3:g.22102A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.648A= MANE Select	ENSP00000261304.2:p.Gln216=
ENST00000261304.6:c.648A=	ENSP00000261304.2:p.Gln216=
ENST00000393568.8:c.579A=	ENSP00000377198.4:p.Gln193=
ENST00000393569.6:c.570A=	ENSP00000377199.2:p.Gln190=
ENST00000474294.6:n.638A=
ENST00000477716.3:n.403A=
ENST00000544807.6:c.480A=	ENSP00000437513.2:p.Gln160=
ENST00000554916.5:n.527A=
ENST00000555000.5:c.15A=	ENSP00000450472.1:p.Gln5=
ENST00000557316.5:c.*46A=	ENSP00000452314.1:n.*46A=
ENST00000622264.4:c.638A=
NM_000153.3:c.648A=	NP_000144.2:p.Gln216=
NM_001201401.1:c.579A=	NP_001188330.1:p.Gln193=
NM_001201402.1:c.570A=	NP_001188331.1:p.Gln190=
XM_011536618.1:c.480A=	XP_011534920.1:p.Gln160=
XM_011536618.2:c.480A=	XP_011534920.1:p.Gln160=
NM_000153.4:c.648A= MANE Select	NP_000144.2:p.Gln216=
NM_001201401.2:c.579A=	NP_001188330.1:p.Gln193=
NM_001201402.2:c.570A=	NP_001188331.1:p.Gln190=