Canonical Allele Identifier: CA2153353360

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941436C= , CM000676.2:g.87941436C=	GRCh38
NC_000014.8:g.88407780C= , CM000676.1:g.88407780C=	GRCh37
NC_000014.7:g.87477533C=	NCBI36
NG_011853.2:g.57128G=
NG_011853.3:g.57128G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1793G= MANE Select	ENSP00000261304.2:p.Trp598=
ENST00000261304.6:c.1793G=	ENSP00000261304.2:p.Trp598=
ENST00000393568.8:c.1724G=	ENSP00000377198.4:p.Trp575=
ENST00000393569.6:c.1715G=	ENSP00000377199.2:p.Trp572=
ENST00000544807.6:c.1625G=	ENSP00000437513.2:p.Trp542=
ENST00000555000.5:c.1160G=	ENSP00000450472.1:p.Trp387=
ENST00000555179.1:c.329G=
ENST00000557316.5:c.*1191G=	ENSP00000452314.1:n.*1191G=
NM_000153.3:c.1793G=	NP_000144.2:p.Trp598=
NM_001201401.1:c.1724G=	NP_001188330.1:p.Trp575=
NM_001201402.1:c.1715G=	NP_001188331.1:p.Trp572=
XM_011536618.1:c.1625G=	XP_011534920.1:p.Trp542=
XM_011536618.2:c.1625G=	XP_011534920.1:p.Trp542=
NM_000153.4:c.1793G= MANE Select	NP_000144.2:p.Trp598=
NM_001201401.2:c.1724G=	NP_001188330.1:p.Trp575=
NM_001201402.2:c.1715G=	NP_001188331.1:p.Trp572=