Canonical Allele Identifier: CA264711510

Gene: GALC

Linked Data

• dbSNP Id: rs924257644
• MyVariant Identifiers: chr14:g.88452868T>C (hg19) ; chr14:g.87986524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986524T>C , CM000676.2:g.87986524T>C	GRCh38
NC_000014.8:g.88452868T>C , CM000676.1:g.88452868T>C	GRCh37
NC_000014.7:g.87522621T>C	NCBI36
NG_011853.2:g.12040A>G
NG_011853.3:g.12040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.407A>G MANE Select	ENSP00000261304.2:p.Glu136Gly
ENST00000261304.6:c.407A>G	ENSP00000261304.2:p.Glu136Gly
ENST00000393568.8:c.338A>G	ENSP00000377198.4:p.Glu113Gly
ENST00000393569.6:c.329A>G	ENSP00000377199.2:p.Glu110Gly
ENST00000474294.6:n.397A>G
ENST00000544807.6:c.239A>G	ENSP00000437513.2:p.Glu80Gly
ENST00000554372.5:c.*156A>G	ENSP00000451884.1:n.*156A>G
ENST00000554916.5:n.286A>G
ENST00000556261.5:n.108A>G
ENST00000556879.5:c.467A>G	ENSP00000452208.1:n.467A>G
ENST00000557316.5:c.407A>G	ENSP00000452314.1:p.Glu136Gly
ENST00000622264.4:c.397A>G
NM_000153.3:c.407A>G	NP_000144.2:p.Glu136Gly
NM_001201401.1:c.338A>G	NP_001188330.1:p.Glu113Gly
NM_001201402.1:c.329A>G	NP_001188331.1:p.Glu110Gly
XM_011536618.1:c.239A>G	XP_011534920.1:p.Glu80Gly
XM_011536618.2:c.239A>G	XP_011534920.1:p.Glu80Gly
NM_000153.4:c.407A>G MANE Select	NP_000144.2:p.Glu136Gly
NM_001201401.2:c.338A>G	NP_001188330.1:p.Glu113Gly
NM_001201402.2:c.329A>G	NP_001188331.1:p.Glu110Gly