Canonical Allele Identifier: CA259865
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 30615
ClinVar RCV Id: RCV000023589
dbSNP Id: rs387906953

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87941433A>C , CM000676.2:g.87941433A>C GRCh38
NC_000014.8:g.88407777A>C , CM000676.1:g.88407777A>C GRCh37
NC_000014.7:g.87477530A>C NCBI36
NG_011853.2:g.57131T>G
NG_011853.3:g.57131T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1796T>G MANE Select ENSP00000261304.2:p.Ile599Ser
ENST00000261304.6:c.1796T>G ENSP00000261304.2:p.Ile599Ser
ENST00000393568.8:c.1727T>G ENSP00000377198.4:p.Ile576Ser
ENST00000393569.6:c.1718T>G ENSP00000377199.2:p.Ile573Ser
ENST00000544807.6:c.1628T>G ENSP00000437513.2:p.Ile543Ser
ENST00000555000.5:c.1163T>G ENSP00000450472.1:p.Ile388Ser
ENST00000555179.1:c.332T>G
ENST00000557316.5:c.*1194T>G ENSP00000452314.1:n.*1194T>G
NM_000153.3:c.1796T>G NP_000144.2:p.Ile599Ser
NM_001201401.1:c.1727T>G NP_001188330.1:p.Ile576Ser
NM_001201402.1:c.1718T>G NP_001188331.1:p.Ile573Ser
XM_011536618.1:c.1628T>G XP_011534920.1:p.Ile543Ser
XM_011536618.2:c.1628T>G XP_011534920.1:p.Ile543Ser
NM_000153.4:c.1796T>G MANE Select NP_000144.2:p.Ile599Ser
NM_001201401.2:c.1727T>G NP_001188330.1:p.Ile576Ser
NM_001201402.2:c.1718T>G NP_001188331.1:p.Ile573Ser