Canonical Allele Identifier: CA487355516

Gene: GALC

Linked Data

• ClinVar Variation Id: 2105963
• ClinVar RCV Id: RCV003045257
• MyVariant Identifiers: chr14:g.88411959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945615C>T , CM000676.2:g.87945615C>T	GRCh38
NC_000014.8:g.88411959C>T , CM000676.1:g.88411959C>T	GRCh37
NC_000014.7:g.87481712C>T	NCBI36
NG_011853.2:g.52949G>A
NG_011853.3:g.52949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1608G>A MANE Select	ENSP00000261304.2:p.Gln536=
ENST00000261304.6:c.1608G>A	ENSP00000261304.2:p.Gln536=
ENST00000393568.8:c.1539G>A	ENSP00000377198.4:p.Gln513=
ENST00000393569.6:c.1530G>A	ENSP00000377199.2:p.Gln510=
ENST00000544807.6:c.1440G>A	ENSP00000437513.2:p.Gln480=
ENST00000555000.5:c.975G>A	ENSP00000450472.1:p.Gln325=
ENST00000555179.1:c.206+2113G>A
ENST00000557316.5:c.*1006G>A	ENSP00000452314.1:n.*1006G>A
NM_000153.3:c.1608G>A	NP_000144.2:p.Gln536=
NM_001201401.1:c.1539G>A	NP_001188330.1:p.Gln513=
NM_001201402.1:c.1530G>A	NP_001188331.1:p.Gln510=
XM_011536618.1:c.1440G>A	XP_011534920.1:p.Gln480=
XM_011536618.2:c.1440G>A	XP_011534920.1:p.Gln480=
NM_000153.4:c.1608G>A MANE Select	NP_000144.2:p.Gln536=
NM_001201401.2:c.1539G>A	NP_001188330.1:p.Gln513=
NM_001201402.2:c.1530G>A	NP_001188331.1:p.Gln510=