Canonical Allele Identifier: CA2153381772

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976406G= , CM000676.2:g.87976406G=	GRCh38
NC_000014.8:g.88442750G= , CM000676.1:g.88442750G=	GRCh37
NC_000014.7:g.87512503G=	NCBI36
NG_011853.2:g.22158C=
NG_011853.3:g.22158C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.704C= MANE Select	ENSP00000261304.2:p.Ala235=
ENST00000261304.6:c.704C=	ENSP00000261304.2:p.Ala235=
ENST00000393568.8:c.635C=	ENSP00000377198.4:p.Ala212=
ENST00000393569.6:c.626C=	ENSP00000377199.2:p.Ala209=
ENST00000474294.6:n.694C=
ENST00000477716.3:n.459C=
ENST00000544807.6:c.536C=	ENSP00000437513.2:p.Ala179=
ENST00000554916.5:n.583C=
ENST00000555000.5:c.71C=	ENSP00000450472.1:p.Ala24=
ENST00000557316.5:c.*102C=	ENSP00000452314.1:n.*102C=
ENST00000622264.4:c.694C=
NM_000153.3:c.704C=	NP_000144.2:p.Ala235=
NM_001201401.1:c.635C=	NP_001188330.1:p.Ala212=
NM_001201402.1:c.626C=	NP_001188331.1:p.Ala209=
XM_011536618.1:c.536C=	XP_011534920.1:p.Ala179=
XM_011536618.2:c.536C=	XP_011534920.1:p.Ala179=
NM_000153.4:c.704C= MANE Select	NP_000144.2:p.Ala235=
NM_001201401.2:c.635C=	NP_001188330.1:p.Ala212=
NM_001201402.2:c.626C=	NP_001188331.1:p.Ala209=