Canonical Allele Identifier: CA2153381760

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976388G= , CM000676.2:g.87976388G=	GRCh38
NC_000014.8:g.88442732G= , CM000676.1:g.88442732G=	GRCh37
NC_000014.7:g.87512485G=	NCBI36
NG_011853.2:g.22176C=
NG_011853.3:g.22176C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.722C= MANE Select	ENSP00000261304.2:p.Ala241=
ENST00000261304.6:c.722C=	ENSP00000261304.2:p.Ala241=
ENST00000393568.8:c.653C=	ENSP00000377198.4:p.Ala218=
ENST00000393569.6:c.644C=	ENSP00000377199.2:p.Ala215=
ENST00000474294.6:n.712C=
ENST00000477716.3:n.477C=
ENST00000544807.6:c.554C=	ENSP00000437513.2:p.Ala185=
ENST00000554916.5:n.601C=
ENST00000555000.5:c.89C=	ENSP00000450472.1:p.Ala30=
ENST00000557316.5:c.*120C=	ENSP00000452314.1:n.*120C=
ENST00000622264.4:c.712C=
NM_000153.3:c.722C=	NP_000144.2:p.Ala241=
NM_001201401.1:c.653C=	NP_001188330.1:p.Ala218=
NM_001201402.1:c.644C=	NP_001188331.1:p.Ala215=
XM_011536618.1:c.554C=	XP_011534920.1:p.Ala185=
XM_011536618.2:c.554C=	XP_011534920.1:p.Ala185=
NM_000153.4:c.722C= MANE Select	NP_000144.2:p.Ala241=
NM_001201401.2:c.653C=	NP_001188330.1:p.Ala218=
NM_001201402.2:c.644C=	NP_001188331.1:p.Ala215=