Canonical Allele Identifier: CA2153356995

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945731A= , CM000676.2:g.87945731A=	GRCh38
NC_000014.8:g.88412075A= , CM000676.1:g.88412075A=	GRCh37
NC_000014.7:g.87481828A=	NCBI36
NG_011853.2:g.52833T=
NG_011853.3:g.52833T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1492T= MANE Select	ENSP00000261304.2:p.Tyr498=
ENST00000261304.6:c.1492T=	ENSP00000261304.2:p.Tyr498=
ENST00000393568.8:c.1423T=	ENSP00000377198.4:p.Tyr475=
ENST00000393569.6:c.1414T=	ENSP00000377199.2:p.Tyr472=
ENST00000544807.6:c.1324T=	ENSP00000437513.2:p.Tyr442=
ENST00000555000.5:c.859T=	ENSP00000450472.1:p.Tyr287=
ENST00000555179.1:c.206+1997T=
ENST00000557316.5:c.*890T=	ENSP00000452314.1:n.*890T=
NM_000153.3:c.1492T=	NP_000144.2:p.Tyr498=
NM_001201401.1:c.1423T=	NP_001188330.1:p.Tyr475=
NM_001201402.1:c.1414T=	NP_001188331.1:p.Tyr472=
XM_011536618.1:c.1324T=	XP_011534920.1:p.Tyr442=
XM_011536618.2:c.1324T=	XP_011534920.1:p.Tyr442=
NM_000153.4:c.1492T= MANE Select	NP_000144.2:p.Tyr498=
NM_001201401.2:c.1423T=	NP_001188330.1:p.Tyr475=
NM_001201402.2:c.1414T=	NP_001188331.1:p.Tyr472=