Canonical Allele Identifier: CA2153381764

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976397A= , CM000676.2:g.87976397A=	GRCh38
NC_000014.8:g.88442741A= , CM000676.1:g.88442741A=	GRCh37
NC_000014.7:g.87512494A=	NCBI36
NG_011853.2:g.22167T=
NG_011853.3:g.22167T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.713T= MANE Select	ENSP00000261304.2:p.Leu238=
ENST00000261304.6:c.713T=	ENSP00000261304.2:p.Leu238=
ENST00000393568.8:c.644T=	ENSP00000377198.4:p.Leu215=
ENST00000393569.6:c.635T=	ENSP00000377199.2:p.Leu212=
ENST00000474294.6:n.703T=
ENST00000477716.3:n.468T=
ENST00000544807.6:c.545T=	ENSP00000437513.2:p.Leu182=
ENST00000554916.5:n.592T=
ENST00000555000.5:c.80T=	ENSP00000450472.1:p.Leu27=
ENST00000557316.5:c.*111T=	ENSP00000452314.1:n.*111T=
ENST00000622264.4:c.703T=
NM_000153.3:c.713T=	NP_000144.2:p.Leu238=
NM_001201401.1:c.644T=	NP_001188330.1:p.Leu215=
NM_001201402.1:c.635T=	NP_001188331.1:p.Leu212=
XM_011536618.1:c.545T=	XP_011534920.1:p.Leu182=
XM_011536618.2:c.545T=	XP_011534920.1:p.Leu182=
NM_000153.4:c.713T= MANE Select	NP_000144.2:p.Leu238=
NM_001201401.2:c.644T=	NP_001188330.1:p.Leu215=
NM_001201402.2:c.635T=	NP_001188331.1:p.Leu212=