Canonical Allele Identifier: CA390745975
Gene: GALC HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.88411910C>G (hg19) chr14:g.87945566C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87945566C>G , CM000676.2:g.87945566C>G GRCh38
NC_000014.8:g.88411910C>G , CM000676.1:g.88411910C>G GRCh37
NC_000014.7:g.87481663C>G NCBI36
NG_011853.2:g.52998G>C
NG_011853.3:g.52998G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1657G>C MANE Select ENSP00000261304.2:p.Gly553Arg
ENST00000261304.6:c.1657G>C ENSP00000261304.2:p.Gly553Arg
ENST00000393568.8:c.1588G>C ENSP00000377198.4:p.Gly530Arg
ENST00000393569.6:c.1579G>C ENSP00000377199.2:p.Gly527Arg
ENST00000544807.6:c.1489G>C ENSP00000437513.2:p.Gly497Arg
ENST00000555000.5:c.1024G>C ENSP00000450472.1:p.Gly342Arg
ENST00000555179.1:c.206+2162G>C
ENST00000557316.5:c.*1055G>C ENSP00000452314.1:n.*1055G>C
NM_000153.3:c.1657G>C NP_000144.2:p.Gly553Arg
NM_001201401.1:c.1588G>C NP_001188330.1:p.Gly530Arg
NM_001201402.1:c.1579G>C NP_001188331.1:p.Gly527Arg
XM_011536618.1:c.1489G>C XP_011534920.1:p.Gly497Arg
XM_011536618.2:c.1489G>C XP_011534920.1:p.Gly497Arg
NM_000153.4:c.1657G>C MANE Select NP_000144.2:p.Gly553Arg
NM_001201401.2:c.1588G>C NP_001188330.1:p.Gly530Arg
NM_001201402.2:c.1579G>C NP_001188331.1:p.Gly527Arg
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