Canonical Allele Identifier: CA390746286

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412051T>A (hg19) ; chr14:g.87945707T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945707T>A , CM000676.2:g.87945707T>A	GRCh38
NC_000014.8:g.88412051T>A , CM000676.1:g.88412051T>A	GRCh37
NC_000014.7:g.87481804T>A	NCBI36
NG_011853.2:g.52857A>T
NG_011853.3:g.52857A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1516A>T MANE Select	ENSP00000261304.2:p.Asn506Tyr
ENST00000261304.6:c.1516A>T	ENSP00000261304.2:p.Asn506Tyr
ENST00000393568.8:c.1447A>T	ENSP00000377198.4:p.Asn483Tyr
ENST00000393569.6:c.1438A>T	ENSP00000377199.2:p.Asn480Tyr
ENST00000544807.6:c.1348A>T	ENSP00000437513.2:p.Asn450Tyr
ENST00000555000.5:c.883A>T	ENSP00000450472.1:p.Asn295Tyr
ENST00000555179.1:c.206+2021A>T
ENST00000557316.5:c.*914A>T	ENSP00000452314.1:n.*914A>T
NM_000153.3:c.1516A>T	NP_000144.2:p.Asn506Tyr
NM_001201401.1:c.1447A>T	NP_001188330.1:p.Asn483Tyr
NM_001201402.1:c.1438A>T	NP_001188331.1:p.Asn480Tyr
XM_011536618.1:c.1348A>T	XP_011534920.1:p.Asn450Tyr
XM_011536618.2:c.1348A>T	XP_011534920.1:p.Asn450Tyr
NM_000153.4:c.1516A>T MANE Select	NP_000144.2:p.Asn506Tyr
NM_001201401.2:c.1447A>T	NP_001188330.1:p.Asn483Tyr
NM_001201402.2:c.1438A>T	NP_001188331.1:p.Asn480Tyr