Canonical Allele Identifier: CA2153384520

Gene: GALC

Linked Data

• dbSNP Id: rs1886775222
• gnomAD v4: 14-87982150-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982150T>C , CM000676.2:g.87982150T>C	GRCh38
NC_000014.8:g.88448494T>C , CM000676.1:g.88448494T>C	GRCh37
NC_000014.7:g.87518247T>C	NCBI36
NG_011853.2:g.16414A>G
NG_011853.3:g.16414A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.621+55A>G MANE Select	ENSP00000261304.2:n.621+55A>G
ENST00000261304.6:c.621+55A>G	ENSP00000261304.2:n.621+55A>G
ENST00000393568.8:c.552+55A>G	ENSP00000377198.4:n.552+55A>G
ENST00000393569.6:c.543+55A>G	ENSP00000377199.2:n.543+55A>G
ENST00000474294.6:n.611+55A>G
ENST00000544807.6:c.453+55A>G	ENSP00000437513.2:n.453+55A>G
ENST00000554916.5:n.500+55A>G
ENST00000556261.5:n.322+55A>G
ENST00000557316.5:c.621+55A>G	ENSP00000452314.1:n.621+55A>G
ENST00000622264.4:c.611+55A>G
NM_000153.3:c.621+55A>G	NP_000144.2:n.621+55A>G
NM_001201401.1:c.552+55A>G	NP_001188330.1:n.552+55A>G
NM_001201402.1:c.543+55A>G	NP_001188331.1:n.543+55A>G
XM_011536618.1:c.453+55A>G	XP_011534920.1:n.453+55A>G
XM_011536618.2:c.453+55A>G	XP_011534920.1:n.453+55A>G
NM_000153.4:c.621+55A>G MANE Select	NP_000144.2:n.621+55A>G
NM_001201401.2:c.552+55A>G	NP_001188330.1:n.552+55A>G
NM_001201402.2:c.543+55A>G	NP_001188331.1:n.543+55A>G