Canonical Allele Identifier: CA390749389

Gene: GALC

Linked Data

• ClinVar Variation Id: 2165888
• ClinVar RCV Id: RCV003090210
• MyVariant Identifiers: chr14:g.88442735T>C (hg19) ; chr14:g.87976391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976391T>C , CM000676.2:g.87976391T>C	GRCh38
NC_000014.8:g.88442735T>C , CM000676.1:g.88442735T>C	GRCh37
NC_000014.7:g.87512488T>C	NCBI36
NG_011853.2:g.22173A>G
NG_011853.3:g.22173A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.719A>G MANE Select	ENSP00000261304.2:p.Asp240Gly
ENST00000261304.6:c.719A>G	ENSP00000261304.2:p.Asp240Gly
ENST00000393568.8:c.650A>G	ENSP00000377198.4:p.Asp217Gly
ENST00000393569.6:c.641A>G	ENSP00000377199.2:p.Asp214Gly
ENST00000474294.6:n.709A>G
ENST00000477716.3:n.474A>G
ENST00000544807.6:c.551A>G	ENSP00000437513.2:p.Asp184Gly
ENST00000554916.5:n.598A>G
ENST00000555000.5:c.86A>G	ENSP00000450472.1:p.Asp29Gly
ENST00000557316.5:c.*117A>G	ENSP00000452314.1:n.*117A>G
ENST00000622264.4:c.709A>G
NM_000153.3:c.719A>G	NP_000144.2:p.Asp240Gly
NM_001201401.1:c.650A>G	NP_001188330.1:p.Asp217Gly
NM_001201402.1:c.641A>G	NP_001188331.1:p.Asp214Gly
XM_011536618.1:c.551A>G	XP_011534920.1:p.Asp184Gly
XM_011536618.2:c.551A>G	XP_011534920.1:p.Asp184Gly
NM_000153.4:c.719A>G MANE Select	NP_000144.2:p.Asp240Gly
NM_001201401.2:c.650A>G	NP_001188330.1:p.Asp217Gly
NM_001201402.2:c.641A>G	NP_001188331.1:p.Asp214Gly