Canonical Allele Identifier: CA264685589

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947749A>T , CM000676.2:g.87947749A>T	GRCh38
NC_000014.8:g.88414093A>T , CM000676.1:g.88414093A>T	GRCh37
NC_000014.7:g.87483846A>T	NCBI36
NG_011853.2:g.50815T>A
NG_011853.3:g.50815T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1468T>A MANE Select	NP_000144.2:p.Tyr490Asn
ENST00000261304.7:c.1468T>A MANE Select	ENSP00000261304.2:p.Tyr490Asn
NM_000153.3:c.1468T>A	NP_000144.2:p.Tyr490Asn
NM_001201401.1:c.1399T>A	NP_001188330.1:p.Tyr467Asn
NM_001201401.2:c.1399T>A	NP_001188330.1:p.Tyr467Asn
NM_001201402.1:c.1390T>A	NP_001188331.1:p.Tyr464Asn
NM_001201402.2:c.1390T>A	NP_001188331.1:p.Tyr464Asn
ENST00000261304.6:c.1468T>A	ENSP00000261304.2:p.Tyr490Asn
ENST00000393568.8:c.1399T>A	ENSP00000377198.4:p.Tyr467Asn
ENST00000393569.6:c.1390T>A	ENSP00000377199.2:p.Tyr464Asn
ENST00000544807.6:c.1300T>A	ENSP00000437513.2:p.Tyr434Asn
ENST00000555000.5:c.835T>A	ENSP00000450472.1:p.Tyr279Asn
ENST00000555179.1:c.185T>A
ENST00000557316.5:c.*866T>A	ENSP00000452314.1:n.*866T>A
XM_011536618.1:c.1300T>A	XP_011534920.1:p.Tyr434Asn
XM_011536618.2:c.1300T>A	XP_011534920.1:p.Tyr434Asn