Canonical Allele Identifier: CA487355509

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411950A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945606A>T , CM000676.2:g.87945606A>T	GRCh38
NC_000014.8:g.88411950A>T , CM000676.1:g.88411950A>T	GRCh37
NC_000014.7:g.87481703A>T	NCBI36
NG_011853.2:g.52958T>A
NG_011853.3:g.52958T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1617T>A MANE Select	ENSP00000261304.2:p.Ile539=
ENST00000261304.6:c.1617T>A	ENSP00000261304.2:p.Ile539=
ENST00000393568.8:c.1548T>A	ENSP00000377198.4:p.Ile516=
ENST00000393569.6:c.1539T>A	ENSP00000377199.2:p.Ile513=
ENST00000544807.6:c.1449T>A	ENSP00000437513.2:p.Ile483=
ENST00000555000.5:c.984T>A	ENSP00000450472.1:p.Ile328=
ENST00000555179.1:c.206+2122T>A
ENST00000557316.5:c.*1015T>A	ENSP00000452314.1:n.*1015T>A
NM_000153.3:c.1617T>A	NP_000144.2:p.Ile539=
NM_001201401.1:c.1548T>A	NP_001188330.1:p.Ile516=
NM_001201402.1:c.1539T>A	NP_001188331.1:p.Ile513=
XM_011536618.1:c.1449T>A	XP_011534920.1:p.Ile483=
XM_011536618.2:c.1449T>A	XP_011534920.1:p.Ile483=
NM_000153.4:c.1617T>A MANE Select	NP_000144.2:p.Ile539=
NM_001201401.2:c.1548T>A	NP_001188330.1:p.Ile516=
NM_001201402.2:c.1539T>A	NP_001188331.1:p.Ile513=