Canonical Allele Identifier: CA16041695

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949911del , CM000676.2:g.87949911del	GRCh38
NC_000014.8:g.88416255del , CM000676.1:g.88416255del	GRCh37
NC_000014.7:g.87486008del	NCBI36
NG_011853.2:g.48654del
NG_011853.3:g.48654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1273del MANE Select	ENSP00000261304.2:p.Val425TyrfsTer?
ENST00000261304.6:c.1273del	ENSP00000261304.2:p.Val425TyrfsTer?
ENST00000393568.8:c.1204del	ENSP00000377198.4:p.Val402TyrfsTer?
ENST00000393569.6:c.1195del	ENSP00000377199.2:p.Val399TyrfsTer?
ENST00000544807.6:c.1105del	ENSP00000437513.2:p.Val369TyrfsTer?
ENST00000555000.5:c.640del	ENSP00000450472.1:p.Val214TyrfsTer?
ENST00000557316.5:c.*671del	ENSP00000452314.1:n.*671del
NM_000153.3:c.1273del	NP_000144.2:p.Val425TyrfsTer?
NM_001201401.1:c.1204del	NP_001188330.1:p.Val402TyrfsTer?
NM_001201402.1:c.1195del	NP_001188331.1:p.Val399TyrfsTer?
XM_011536618.1:c.1105del	XP_011534920.1:p.Val369TyrfsTer?
XM_011536618.2:c.1105del	XP_011534920.1:p.Val369TyrfsTer?
NM_000153.4:c.1273del MANE Select	NP_000144.2:p.Val425TyrfsTer?
NM_001201401.2:c.1204del	NP_001188330.1:p.Val402TyrfsTer?
NM_001201402.2:c.1195del	NP_001188331.1:p.Val399TyrfsTer?