Canonical Allele Identifier: CA259871
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87993044C>T
GRCh37 chr14:g.88459388C>T
Revel Score:
ENST00000261304 (MANE Select) 0.235
ENST00000393568 0.235
ENST00000445021 0.235
ClinVar Allele:
39578
ClinVar RCV:
RCV000023595
ClinVar Variation:
30621
dbSNP:
387906955
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87993044C>T , CM000676.2:g.87993044C>T GRCh38
NC_000014.8:g.88459388C>T , CM000676.1:g.88459388C>T GRCh37
NC_000014.7:g.87529141C>T NCBI36
NG_011853.2:g.5520G>A
NG_011853.3:g.5520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.121G>A MANE Select ENSP00000261304.2:p.Gly41Ser
ENST00000261304.6:c.121G>A ENSP00000261304.2:p.Gly41Ser
ENST00000393568.8:c.121G>A ENSP00000377198.4:p.Gly41Ser
ENST00000393569.6:c.117+339G>A ENSP00000377199.2:n.117+339G>A
ENST00000474294.6:n.111G>A
ENST00000554372.5:c.121G>A ENSP00000451884.1:p.Gly41Ser
ENST00000556879.5:c.79G>A ENSP00000452208.1:p.Gly27Ser
ENST00000557316.5:c.121G>A ENSP00000452314.1:p.Gly41Ser
ENST00000622264.4:c.111G>A
NM_000153.3:c.121G>A NP_000144.2:p.Gly41Ser
NM_001201401.1:c.121G>A NP_001188330.1:p.Gly41Ser
NM_001201402.1:c.117+339G>A NP_001188331.1:n.117+339G>A
NM_000153.4:c.121G>A MANE Select NP_000144.2:p.Gly41Ser
NM_001201401.2:c.121G>A NP_001188330.1:p.Gly41Ser
NM_001201402.2:c.117+339G>A NP_001188331.1:n.117+339G>A
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