Canonical Allele Identifier: CA390746288

Gene: GALC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1516A>C MANE Select	ENSP00000261304.2:p.Asn506His
ENST00000261304.6:c.1516A>C	ENSP00000261304.2:p.Asn506His
ENST00000393568.8:c.1447A>C	ENSP00000377198.4:p.Asn483His
ENST00000393569.6:c.1438A>C	ENSP00000377199.2:p.Asn480His
ENST00000544807.6:c.1348A>C	ENSP00000437513.2:p.Asn450His
ENST00000555000.5:c.883A>C	ENSP00000450472.1:p.Asn295His
ENST00000555179.1:c.206+2021A>C
ENST00000557316.5:c.*914A>C	ENSP00000452314.1:n.*914A>C
NM_000153.3:c.1516A>C	NP_000144.2:p.Asn506His
NM_001201401.1:c.1447A>C	NP_001188330.1:p.Asn483His
NM_001201402.1:c.1438A>C	NP_001188331.1:p.Asn480His
XM_011536618.1:c.1348A>C	XP_011534920.1:p.Asn450His
XM_011536618.2:c.1348A>C	XP_011534920.1:p.Asn450His
NM_000153.4:c.1516A>C MANE Select	NP_000144.2:p.Asn506His
NM_001201401.2:c.1447A>C	NP_001188330.1:p.Asn483His
NM_001201402.2:c.1438A>C	NP_001188331.1:p.Asn480His