Canonical Allele Identifier: CA390749561

Gene: GALC

Linked Data

• ClinVar Variation Id: 990193
• ClinVar RCV Id: RCV001278165 ; RCV003130237
• dbSNP Id: rs1886495923
• gnomAD v4: 14-87976430-T-C
• MyVariant Identifiers: chr14:g.88442774T>C (hg19) ; chr14:g.87976430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976430T>C , CM000676.2:g.87976430T>C	GRCh38
NC_000014.8:g.88442774T>C , CM000676.1:g.88442774T>C	GRCh37
NC_000014.7:g.87512527T>C	NCBI36
NG_011853.2:g.22134A>G
NG_011853.3:g.22134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.680A>G MANE Select	ENSP00000261304.2:p.Asp227Gly
ENST00000261304.6:c.680A>G	ENSP00000261304.2:p.Asp227Gly
ENST00000393568.8:c.611A>G	ENSP00000377198.4:p.Asp204Gly
ENST00000393569.6:c.602A>G	ENSP00000377199.2:p.Asp201Gly
ENST00000474294.6:n.670A>G
ENST00000477716.3:n.435A>G
ENST00000544807.6:c.512A>G	ENSP00000437513.2:p.Asp171Gly
ENST00000554916.5:n.559A>G
ENST00000555000.5:c.47A>G	ENSP00000450472.1:p.Asp16Gly
ENST00000557316.5:c.*78A>G	ENSP00000452314.1:n.*78A>G
ENST00000622264.4:c.670A>G
NM_000153.3:c.680A>G	NP_000144.2:p.Asp227Gly
NM_001201401.1:c.611A>G	NP_001188330.1:p.Asp204Gly
NM_001201402.1:c.602A>G	NP_001188331.1:p.Asp201Gly
XM_011536618.1:c.512A>G	XP_011534920.1:p.Asp171Gly
XM_011536618.2:c.512A>G	XP_011534920.1:p.Asp171Gly
NM_000153.4:c.680A>G MANE Select	NP_000144.2:p.Asp227Gly
NM_001201401.2:c.611A>G	NP_001188330.1:p.Asp204Gly
NM_001201402.2:c.602A>G	NP_001188331.1:p.Asp201Gly