Canonical Allele Identifier: CA390750842

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982233T>G , CM000676.2:g.87982233T>G	GRCh38
NC_000014.8:g.88448577T>G , CM000676.1:g.88448577T>G	GRCh37
NC_000014.7:g.87518330T>G	NCBI36
NG_011853.2:g.16331A>C
NG_011853.3:g.16331A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.593A>C MANE Select	NP_000144.2:p.Glu198Ala
ENST00000261304.7:c.593A>C MANE Select	ENSP00000261304.2:p.Glu198Ala
NM_000153.3:c.593A>C	NP_000144.2:p.Glu198Ala
NM_001201401.1:c.524A>C	NP_001188330.1:p.Glu175Ala
NM_001201401.2:c.524A>C	NP_001188330.1:p.Glu175Ala
NM_001201402.1:c.515A>C	NP_001188331.1:p.Glu172Ala
NM_001201402.2:c.515A>C	NP_001188331.1:p.Glu172Ala
ENST00000261304.6:c.593A>C	ENSP00000261304.2:p.Glu198Ala
ENST00000393568.8:c.524A>C	ENSP00000377198.4:p.Glu175Ala
ENST00000393569.6:c.515A>C	ENSP00000377199.2:p.Glu172Ala
ENST00000474294.6:n.583A>C
ENST00000544807.6:c.425A>C	ENSP00000437513.2:p.Glu142Ala
ENST00000554372.5:c.*342A>C	ENSP00000451884.1:n.*342A>C
ENST00000554916.5:n.472A>C
ENST00000556261.5:n.294A>C
ENST00000557316.5:c.593A>C	ENSP00000452314.1:p.Glu198Ala
ENST00000622264.4:c.583A>C
XM_011536618.1:c.425A>C	XP_011534920.1:p.Glu142Ala
XM_011536618.2:c.425A>C	XP_011534920.1:p.Glu142Ala