Canonical Allele Identifier: CA2575595083

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947667G>C , CM000676.2:g.87947667G>C	GRCh38
NC_000014.8:g.88414011G>C , CM000676.1:g.88414011G>C	GRCh37
NC_000014.7:g.87483764G>C	NCBI36
NG_011853.2:g.50897C>G
NG_011853.3:g.50897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+61C>G MANE Select	ENSP00000261304.2:n.1489+61C>G
ENST00000261304.6:c.1489+61C>G	ENSP00000261304.2:n.1489+61C>G
ENST00000393568.8:c.1420+61C>G	ENSP00000377198.4:n.1420+61C>G
ENST00000393569.6:c.1411+61C>G	ENSP00000377199.2:n.1411+61C>G
ENST00000544807.6:c.1321+61C>G	ENSP00000437513.2:n.1321+61C>G
ENST00000555000.5:c.856+61C>G	ENSP00000450472.1:n.856+61C>G
ENST00000555179.1:c.206+61C>G
ENST00000557316.5:c.*887+61C>G	ENSP00000452314.1:n.*887+61C>G
NM_000153.3:c.1489+61C>G	NP_000144.2:n.1489+61C>G
NM_001201401.1:c.1420+61C>G	NP_001188330.1:n.1420+61C>G
NM_001201402.1:c.1411+61C>G	NP_001188331.1:n.1411+61C>G
XM_011536618.1:c.1321+61C>G	XP_011534920.1:n.1321+61C>G
XM_011536618.2:c.1321+61C>G	XP_011534920.1:n.1321+61C>G
NM_000153.4:c.1489+61C>G MANE Select	NP_000144.2:n.1489+61C>G
NM_001201401.2:c.1420+61C>G	NP_001188330.1:n.1420+61C>G
NM_001201402.2:c.1411+61C>G	NP_001188331.1:n.1411+61C>G