Canonical Allele Identifier: CA350966
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87934749C>T
GRCh37 chr14:g.88401093C>T
GRCh37 chr14:g.88401093_88401097delinsTAAGA
Revel Score:
ENST00000261304 (MANE Select) 0.714
ENST00000393569 0.714
ENST00000539620 0.714
ENST00000393568 0.714
gnomAD v2:
14:88401093 C / T
gnomAD v3:
14:87934749 C / T
gnomAD v4:
chr14-87934749-C-T
Joint Max Group AF 0.00058374 (SAS)
Genomes Max Group AF 0.00028305 (SAS)
Exomes Max Group AF 0.00057556 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87934749C>T , CM000676.2:g.87934749C>T GRCh38
NC_000014.8:g.88401093C>T , CM000676.1:g.88401093C>T GRCh37
NC_000014.7:g.87470846C>T NCBI36
NG_011853.2:g.63815G>A
NG_011853.3:g.63815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.2041G>A MANE Select ENSP00000261304.2:p.Val681Met
ENST00000261304.6:c.2041G>A ENSP00000261304.2:p.Val681Met
ENST00000393568.8:c.1972G>A ENSP00000377198.4:p.Val658Met
ENST00000393569.6:c.1963G>A ENSP00000377199.2:p.Val655Met
ENST00000544807.6:c.1744-750G>A ENSP00000437513.2:n.1744-750G>A
ENST00000555000.5:c.1279-750G>A ENSP00000450472.1:n.1279-750G>A
NM_000153.3:c.2041G>A NP_000144.2:p.Val681Met
NM_001201401.1:c.1972G>A NP_001188330.1:p.Val658Met
NM_001201402.1:c.1963G>A NP_001188331.1:p.Val655Met
XM_011536618.1:c.1873G>A XP_011534920.1:p.Val625Met
XM_011536618.2:c.1873G>A XP_011534920.1:p.Val625Met
NM_000153.4:c.2041G>A MANE Select NP_000144.2:p.Val681Met
NM_001201401.2:c.1972G>A NP_001188330.1:p.Val658Met
NM_001201402.2:c.1963G>A NP_001188331.1:p.Val655Met
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