Canonical Allele Identifier: CA390746283

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412050T>A (hg19) ; chr14:g.87945706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945706T>A , CM000676.2:g.87945706T>A	GRCh38
NC_000014.8:g.88412050T>A , CM000676.1:g.88412050T>A	GRCh37
NC_000014.7:g.87481803T>A	NCBI36
NG_011853.2:g.52858A>T
NG_011853.3:g.52858A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1517A>T MANE Select	ENSP00000261304.2:p.Asn506Ile
ENST00000261304.6:c.1517A>T	ENSP00000261304.2:p.Asn506Ile
ENST00000393568.8:c.1448A>T	ENSP00000377198.4:p.Asn483Ile
ENST00000393569.6:c.1439A>T	ENSP00000377199.2:p.Asn480Ile
ENST00000544807.6:c.1349A>T	ENSP00000437513.2:p.Asn450Ile
ENST00000555000.5:c.884A>T	ENSP00000450472.1:p.Asn295Ile
ENST00000555179.1:c.206+2022A>T
ENST00000557316.5:c.*915A>T	ENSP00000452314.1:n.*915A>T
NM_000153.3:c.1517A>T	NP_000144.2:p.Asn506Ile
NM_001201401.1:c.1448A>T	NP_001188330.1:p.Asn483Ile
NM_001201402.1:c.1439A>T	NP_001188331.1:p.Asn480Ile
XM_011536618.1:c.1349A>T	XP_011534920.1:p.Asn450Ile
XM_011536618.2:c.1349A>T	XP_011534920.1:p.Asn450Ile
NM_000153.4:c.1517A>T MANE Select	NP_000144.2:p.Asn506Ile
NM_001201401.2:c.1448A>T	NP_001188330.1:p.Asn483Ile
NM_001201402.2:c.1439A>T	NP_001188331.1:p.Asn480Ile