Canonical Allele Identifier: CA390751758

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450826T>C (hg19) ; chr14:g.87984482T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984482T>C , CM000676.2:g.87984482T>C	GRCh38
NC_000014.8:g.88450826T>C , CM000676.1:g.88450826T>C	GRCh37
NC_000014.7:g.87520579T>C	NCBI36
NG_011853.2:g.14082A>G
NG_011853.3:g.14082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.494A>G MANE Select	ENSP00000261304.2:p.Tyr165Cys
ENST00000261304.6:c.494A>G	ENSP00000261304.2:p.Tyr165Cys
ENST00000393568.8:c.425A>G	ENSP00000377198.4:p.Tyr142Cys
ENST00000393569.6:c.416A>G	ENSP00000377199.2:p.Tyr139Cys
ENST00000474294.6:n.484A>G
ENST00000544807.6:c.326A>G	ENSP00000437513.2:p.Tyr109Cys
ENST00000554372.5:c.*243A>G	ENSP00000451884.1:n.*243A>G
ENST00000554916.5:n.373A>G
ENST00000556261.5:n.195A>G
ENST00000556879.5:c.554A>G	ENSP00000452208.1:n.554A>G
ENST00000557316.5:c.494A>G	ENSP00000452314.1:p.Tyr165Cys
ENST00000622264.4:c.484A>G
NM_000153.3:c.494A>G	NP_000144.2:p.Tyr165Cys
NM_001201401.1:c.425A>G	NP_001188330.1:p.Tyr142Cys
NM_001201402.1:c.416A>G	NP_001188331.1:p.Tyr139Cys
XM_011536618.1:c.326A>G	XP_011534920.1:p.Tyr109Cys
XM_011536618.2:c.326A>G	XP_011534920.1:p.Tyr109Cys
NM_000153.4:c.494A>G MANE Select	NP_000144.2:p.Tyr165Cys
NM_001201401.2:c.425A>G	NP_001188330.1:p.Tyr142Cys
NM_001201402.2:c.416A>G	NP_001188331.1:p.Tyr139Cys