Canonical Allele Identifier: CA965697687

Gene: GALC

Linked Data

• dbSNP Id: rs1885125079
• gnomAD v3: 14-87947643-A-G
• gnomAD v4: 14-87947643-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947643A>G , CM000676.2:g.87947643A>G	GRCh38
NC_000014.8:g.88413987A>G , CM000676.1:g.88413987A>G	GRCh37
NC_000014.7:g.87483740A>G	NCBI36
NG_011853.2:g.50921T>C
NG_011853.3:g.50921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1489+85T>C MANE Select	ENSP00000261304.2:n.1489+85T>C
ENST00000261304.6:c.1489+85T>C	ENSP00000261304.2:n.1489+85T>C
ENST00000393568.8:c.1420+85T>C	ENSP00000377198.4:n.1420+85T>C
ENST00000393569.6:c.1411+85T>C	ENSP00000377199.2:n.1411+85T>C
ENST00000544807.6:c.1321+85T>C	ENSP00000437513.2:n.1321+85T>C
ENST00000555000.5:c.856+85T>C	ENSP00000450472.1:n.856+85T>C
ENST00000555179.1:c.206+85T>C
ENST00000557316.5:c.*887+85T>C	ENSP00000452314.1:n.*887+85T>C
NM_000153.3:c.1489+85T>C	NP_000144.2:n.1489+85T>C
NM_001201401.1:c.1420+85T>C	NP_001188330.1:n.1420+85T>C
NM_001201402.1:c.1411+85T>C	NP_001188331.1:n.1411+85T>C
XM_011536618.1:c.1321+85T>C	XP_011534920.1:n.1321+85T>C
XM_011536618.2:c.1321+85T>C	XP_011534920.1:n.1321+85T>C
NM_000153.4:c.1489+85T>C MANE Select	NP_000144.2:n.1489+85T>C
NM_001201401.2:c.1420+85T>C	NP_001188330.1:n.1420+85T>C
NM_001201402.2:c.1411+85T>C	NP_001188331.1:n.1411+85T>C