Canonical Allele Identifier: CA10606606
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 289955
dbSNP Id: rs375867319

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945682A>G , CM000676.2:g.87945682A>G GRCh38
NC_000014.8:g.88412026A>G , CM000676.1:g.88412026A>G GRCh37
NC_000014.7:g.87481779A>G NCBI36
NG_011853.2:g.52882T>C
NG_011853.3:g.52882T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1541T>C MANE Select ENSP00000261304.2:p.Phe514Ser
ENST00000261304.6:c.1541T>C ENSP00000261304.2:p.Phe514Ser
ENST00000393568.8:c.1472T>C ENSP00000377198.4:p.Phe491Ser
ENST00000393569.6:c.1463T>C ENSP00000377199.2:p.Phe488Ser
ENST00000544807.6:c.1373T>C ENSP00000437513.2:p.Phe458Ser
ENST00000555000.5:c.908T>C ENSP00000450472.1:p.Phe303Ser
ENST00000555179.1:c.206+2046T>C
ENST00000557316.5:c.*939T>C ENSP00000452314.1:n.*939T>C
NM_000153.3:c.1541T>C NP_000144.2:p.Phe514Ser
NM_001201401.1:c.1472T>C NP_001188330.1:p.Phe491Ser
NM_001201402.1:c.1463T>C NP_001188331.1:p.Phe488Ser
XM_011536618.1:c.1373T>C XP_011534920.1:p.Phe458Ser
XM_011536618.2:c.1373T>C XP_011534920.1:p.Phe458Ser
NM_000153.4:c.1541T>C MANE Select NP_000144.2:p.Phe514Ser
NM_001201401.2:c.1472T>C NP_001188330.1:p.Phe491Ser
NM_001201402.2:c.1463T>C NP_001188331.1:p.Phe488Ser