Canonical Allele Identifier: CA2153384505

Gene: GALC

Linked Data

• dbSNP Id: rs1886773744

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982113A>C , CM000676.2:g.87982113A>C	GRCh38
NC_000014.8:g.88448457A>C , CM000676.1:g.88448457A>C	GRCh37
NC_000014.7:g.87518210A>C	NCBI36
NG_011853.2:g.16451T>G
NG_011853.3:g.16451T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+92T>G MANE Select	ENSP00000261304.2:n.621+92T>G
ENST00000261304.6:c.621+92T>G	ENSP00000261304.2:n.621+92T>G
ENST00000393568.8:c.552+92T>G	ENSP00000377198.4:n.552+92T>G
ENST00000393569.6:c.543+92T>G	ENSP00000377199.2:n.543+92T>G
ENST00000474294.6:n.611+92T>G
ENST00000544807.6:c.453+92T>G	ENSP00000437513.2:n.453+92T>G
ENST00000554916.5:n.500+92T>G
ENST00000556261.5:n.322+92T>G
ENST00000557316.5:c.621+92T>G	ENSP00000452314.1:n.621+92T>G
ENST00000622264.4:c.611+92T>G
NM_000153.3:c.621+92T>G	NP_000144.2:n.621+92T>G
NM_001201401.1:c.552+92T>G	NP_001188330.1:n.552+92T>G
NM_001201402.1:c.543+92T>G	NP_001188331.1:n.543+92T>G
XM_011536618.1:c.453+92T>G	XP_011534920.1:n.453+92T>G
XM_011536618.2:c.453+92T>G	XP_011534920.1:n.453+92T>G
NM_000153.4:c.621+92T>G MANE Select	NP_000144.2:n.621+92T>G
NM_001201401.2:c.552+92T>G	NP_001188330.1:n.552+92T>G
NM_001201402.2:c.543+92T>G	NP_001188331.1:n.543+92T>G