Canonical Allele Identifier: CA390749571

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442775C>A (hg19) ; chr14:g.87976431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976431C>A , CM000676.2:g.87976431C>A	GRCh38
NC_000014.8:g.88442775C>A , CM000676.1:g.88442775C>A	GRCh37
NC_000014.7:g.87512528C>A	NCBI36
NG_011853.2:g.22133G>T
NG_011853.3:g.22133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.679G>T MANE Select	ENSP00000261304.2:p.Asp227Tyr
ENST00000261304.6:c.679G>T	ENSP00000261304.2:p.Asp227Tyr
ENST00000393568.8:c.610G>T	ENSP00000377198.4:p.Asp204Tyr
ENST00000393569.6:c.601G>T	ENSP00000377199.2:p.Asp201Tyr
ENST00000474294.6:n.669G>T
ENST00000477716.3:n.434G>T
ENST00000544807.6:c.511G>T	ENSP00000437513.2:p.Asp171Tyr
ENST00000554916.5:n.558G>T
ENST00000555000.5:c.46G>T	ENSP00000450472.1:p.Asp16Tyr
ENST00000557316.5:c.*77G>T	ENSP00000452314.1:n.*77G>T
ENST00000622264.4:c.669G>T
NM_000153.3:c.679G>T	NP_000144.2:p.Asp227Tyr
NM_001201401.1:c.610G>T	NP_001188330.1:p.Asp204Tyr
NM_001201402.1:c.601G>T	NP_001188331.1:p.Asp201Tyr
XM_011536618.1:c.511G>T	XP_011534920.1:p.Asp171Tyr
XM_011536618.2:c.511G>T	XP_011534920.1:p.Asp171Tyr
NM_000153.4:c.679G>T MANE Select	NP_000144.2:p.Asp227Tyr
NM_001201401.2:c.610G>T	NP_001188330.1:p.Asp204Tyr
NM_001201402.2:c.601G>T	NP_001188331.1:p.Asp201Tyr