Canonical Allele Identifier: CA2153356983

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945723A= , CM000676.2:g.87945723A=	GRCh38
NC_000014.8:g.88412067A= , CM000676.1:g.88412067A=	GRCh37
NC_000014.7:g.87481820A=	NCBI36
NG_011853.2:g.52841T=
NG_011853.3:g.52841T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1500T= MANE Select	ENSP00000261304.2:p.Phe500=
ENST00000261304.6:c.1500T=	ENSP00000261304.2:p.Phe500=
ENST00000393568.8:c.1431T=	ENSP00000377198.4:p.Phe477=
ENST00000393569.6:c.1422T=	ENSP00000377199.2:p.Phe474=
ENST00000544807.6:c.1332T=	ENSP00000437513.2:p.Phe444=
ENST00000555000.5:c.867T=	ENSP00000450472.1:p.Phe289=
ENST00000555179.1:c.206+2005T=
ENST00000557316.5:c.*898T=	ENSP00000452314.1:n.*898T=
NM_000153.3:c.1500T=	NP_000144.2:p.Phe500=
NM_001201401.1:c.1431T=	NP_001188330.1:p.Phe477=
NM_001201402.1:c.1422T=	NP_001188331.1:p.Phe474=
XM_011536618.1:c.1332T=	XP_011534920.1:p.Phe444=
XM_011536618.2:c.1332T=	XP_011534920.1:p.Phe444=
NM_000153.4:c.1500T= MANE Select	NP_000144.2:p.Phe500=
NM_001201401.2:c.1431T=	NP_001188330.1:p.Phe477=
NM_001201402.2:c.1422T=	NP_001188331.1:p.Phe474=