Canonical Allele Identifier: CA3206973079

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965566C= , CM000676.2:g.87965566C=	GRCh38
NC_000014.8:g.88431910C= , CM000676.1:g.88431910C=	GRCh37
NC_000014.7:g.87501663C=	NCBI36
NG_011853.2:g.32998G=
NG_011853.3:g.32998G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.972G= MANE Select	ENSP00000261304.2:p.Leu324=
ENST00000261304.6:c.972G=	ENSP00000261304.2:p.Leu324=
ENST00000393568.8:c.903G=	ENSP00000377198.4:p.Leu301=
ENST00000393569.6:c.894G=	ENSP00000377199.2:p.Leu298=
ENST00000474294.6:n.962G=
ENST00000544807.6:c.804G=	ENSP00000437513.2:p.Leu268=
ENST00000555000.5:c.339G=	ENSP00000450472.1:p.Leu113=
ENST00000557316.5:c.*370G=	ENSP00000452314.1:n.*370G=
ENST00000557520.1:n.58G=
ENST00000622264.4:c.962G=
NM_000153.3:c.972G=	NP_000144.2:p.Leu324=
NM_001201401.1:c.903G=	NP_001188330.1:p.Leu301=
NM_001201402.1:c.894G=	NP_001188331.1:p.Leu298=
XM_011536618.1:c.804G=	XP_011534920.1:p.Leu268=
XM_011536618.2:c.804G=	XP_011534920.1:p.Leu268=
NM_000153.4:c.972G= MANE Select	NP_000144.2:p.Leu324=
NM_001201401.2:c.903G=	NP_001188330.1:p.Leu301=
NM_001201402.2:c.894G=	NP_001188331.1:p.Leu298=