Canonical Allele Identifier: CA2153353393

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941529T= , CM000676.2:g.87941529T=	GRCh38
NC_000014.8:g.88407873T= , CM000676.1:g.88407873T=	GRCh37
NC_000014.7:g.87477626T=	NCBI36
NG_011853.2:g.57035A=
NG_011853.3:g.57035A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1700A= MANE Select	ENSP00000261304.2:p.Tyr567=
ENST00000261304.6:c.1700A=	ENSP00000261304.2:p.Tyr567=
ENST00000393568.8:c.1631A=	ENSP00000377198.4:p.Tyr544=
ENST00000393569.6:c.1622A=	ENSP00000377199.2:p.Tyr541=
ENST00000544807.6:c.1532A=	ENSP00000437513.2:p.Tyr511=
ENST00000555000.5:c.1067A=	ENSP00000450472.1:p.Tyr356=
ENST00000555179.1:c.236A=
ENST00000557316.5:c.*1098A=	ENSP00000452314.1:n.*1098A=
NM_000153.3:c.1700A=	NP_000144.2:p.Tyr567=
NM_001201401.1:c.1631A=	NP_001188330.1:p.Tyr544=
NM_001201402.1:c.1622A=	NP_001188331.1:p.Tyr541=
XM_011536618.1:c.1532A=	XP_011534920.1:p.Tyr511=
XM_011536618.2:c.1532A=	XP_011534920.1:p.Tyr511=
NM_000153.4:c.1700A= MANE Select	NP_000144.2:p.Tyr567=
NM_001201401.2:c.1631A=	NP_001188330.1:p.Tyr544=
NM_001201402.2:c.1622A=	NP_001188331.1:p.Tyr541=