Canonical Allele Identifier: CA487355445

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941543T>A , CM000676.2:g.87941543T>A	GRCh38
NC_000014.8:g.88407887T>A , CM000676.1:g.88407887T>A	GRCh37
NC_000014.7:g.87477640T>A	NCBI36
NG_011853.2:g.57021A>T
NG_011853.3:g.57021A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1686A>T MANE Select	NP_000144.2:p.Ile562=
ENST00000261304.7:c.1686A>T MANE Select	ENSP00000261304.2:p.Ile562=
NM_000153.3:c.1686A>T	NP_000144.2:p.Ile562=
NM_001201401.1:c.1617A>T	NP_001188330.1:p.Ile539=
NM_001201401.2:c.1617A>T	NP_001188330.1:p.Ile539=
NM_001201402.1:c.1608A>T	NP_001188331.1:p.Ile536=
NM_001201402.2:c.1608A>T	NP_001188331.1:p.Ile536=
ENST00000261304.6:c.1686A>T	ENSP00000261304.2:p.Ile562=
ENST00000393568.8:c.1617A>T	ENSP00000377198.4:p.Ile539=
ENST00000393569.6:c.1608A>T	ENSP00000377199.2:p.Ile536=
ENST00000544807.6:c.1518A>T	ENSP00000437513.2:p.Ile506=
ENST00000555000.5:c.1053A>T	ENSP00000450472.1:p.Ile351=
ENST00000555179.1:c.222A>T
ENST00000557316.5:c.*1084A>T	ENSP00000452314.1:n.*1084A>T
XM_011536618.1:c.1518A>T	XP_011534920.1:p.Ile506=
XM_011536618.2:c.1518A>T	XP_011534920.1:p.Ile506=