Canonical Allele Identifier: CA2153353401

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941540C= , CM000676.2:g.87941540C=	GRCh38
NC_000014.8:g.88407884C= , CM000676.1:g.88407884C=	GRCh37
NC_000014.7:g.87477637C=	NCBI36
NG_011853.2:g.57024G=
NG_011853.3:g.57024G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1689G= MANE Select	ENSP00000261304.2:p.Lys563=
ENST00000261304.6:c.1689G=	ENSP00000261304.2:p.Lys563=
ENST00000393568.8:c.1620G=	ENSP00000377198.4:p.Lys540=
ENST00000393569.6:c.1611G=	ENSP00000377199.2:p.Lys537=
ENST00000544807.6:c.1521G=	ENSP00000437513.2:p.Lys507=
ENST00000555000.5:c.1056G=	ENSP00000450472.1:p.Lys352=
ENST00000555179.1:c.225G=
ENST00000557316.5:c.*1087G=	ENSP00000452314.1:n.*1087G=
NM_000153.3:c.1689G=	NP_000144.2:p.Lys563=
NM_001201401.1:c.1620G=	NP_001188330.1:p.Lys540=
NM_001201402.1:c.1611G=	NP_001188331.1:p.Lys537=
XM_011536618.1:c.1521G=	XP_011534920.1:p.Lys507=
XM_011536618.2:c.1521G=	XP_011534920.1:p.Lys507=
NM_000153.4:c.1689G= MANE Select	NP_000144.2:p.Lys563=
NM_001201401.2:c.1620G=	NP_001188330.1:p.Lys540=
NM_001201402.2:c.1611G=	NP_001188331.1:p.Lys537=