Canonical Allele Identifier: CA7297183

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965534T>C , CM000676.2:g.87965534T>C	GRCh38
NC_000014.8:g.88431878T>C , CM000676.1:g.88431878T>C	GRCh37
NC_000014.7:g.87501631T>C	NCBI36
NG_011853.2:g.33030A>G
NG_011853.3:g.33030A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1004A>G MANE Select	NP_000144.2:p.Tyr335Cys
ENST00000261304.7:c.1004A>G MANE Select	ENSP00000261304.2:p.Tyr335Cys
NM_000153.3:c.1004A>G	NP_000144.2:p.Tyr335Cys
NM_001201401.1:c.935A>G	NP_001188330.1:p.Tyr312Cys
NM_001201401.2:c.935A>G	NP_001188330.1:p.Tyr312Cys
NM_001201402.1:c.926A>G	NP_001188331.1:p.Tyr309Cys
NM_001201402.2:c.926A>G	NP_001188331.1:p.Tyr309Cys
ENST00000261304.6:c.1004A>G	ENSP00000261304.2:p.Tyr335Cys
ENST00000393568.8:c.935A>G	ENSP00000377198.4:p.Tyr312Cys
ENST00000393569.6:c.926A>G	ENSP00000377199.2:p.Tyr309Cys
ENST00000474294.6:n.994A>G
ENST00000544807.6:c.836A>G	ENSP00000437513.2:p.Tyr279Cys
ENST00000555000.5:c.371A>G	ENSP00000450472.1:p.Tyr124Cys
ENST00000557316.5:c.*402A>G	ENSP00000452314.1:n.*402A>G
ENST00000557520.1:n.90A>G
ENST00000622264.4:c.994A>G
XM_011536618.1:c.836A>G	XP_011534920.1:p.Tyr279Cys
XM_011536618.2:c.836A>G	XP_011534920.1:p.Tyr279Cys