Canonical Allele Identifier: CA390746049

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945600C>T , CM000676.2:g.87945600C>T	GRCh38
NC_000014.8:g.88411944C>T , CM000676.1:g.88411944C>T	GRCh37
NC_000014.7:g.87481697C>T	NCBI36
NG_011853.2:g.52964G>A
NG_011853.3:g.52964G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1623G>A MANE Select	NP_000144.2:p.Trp541Ter
ENST00000261304.7:c.1623G>A MANE Select	ENSP00000261304.2:p.Trp541Ter
NM_000153.3:c.1623G>A	NP_000144.2:p.Trp541Ter
NM_001201401.1:c.1554G>A	NP_001188330.1:p.Trp518Ter
NM_001201401.2:c.1554G>A	NP_001188330.1:p.Trp518Ter
NM_001201402.1:c.1545G>A	NP_001188331.1:p.Trp515Ter
NM_001201402.2:c.1545G>A	NP_001188331.1:p.Trp515Ter
ENST00000261304.6:c.1623G>A	ENSP00000261304.2:p.Trp541Ter
ENST00000393568.8:c.1554G>A	ENSP00000377198.4:p.Trp518Ter
ENST00000393569.6:c.1545G>A	ENSP00000377199.2:p.Trp515Ter
ENST00000544807.6:c.1455G>A	ENSP00000437513.2:p.Trp485Ter
ENST00000555000.5:c.990G>A	ENSP00000450472.1:p.Trp330Ter
ENST00000555179.1:c.206+2128G>A
ENST00000557316.5:c.*1021G>A	ENSP00000452314.1:n.*1021G>A
XM_011536618.1:c.1455G>A	XP_011534920.1:p.Trp485Ter
XM_011536618.2:c.1455G>A	XP_011534920.1:p.Trp485Ter