Canonical Allele Identifier: CA7296847
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87934869T>A
GRCh37 chr14:g.88401213T>A
Revel Score:
ENST00000261304 (MANE Select) 0.284
ENST00000393569 0.284
ENST00000539620 0.284
ENST00000393568 0.284
gnomAD v2:
14:88401213 T / A
gnomAD v3:
14:87934869 T / A
gnomAD v4:
chr14-87934869-T-A
Joint Max Group AF 0.00000555 (AMR)
Exomes Max Group AF 0.00000744 (AMR)
dbSNP:
421262
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87934869T>A , CM000676.2:g.87934869T>A GRCh38
NC_000014.8:g.88401213T>A , CM000676.1:g.88401213T>A GRCh37
NC_000014.7:g.87470966T>A NCBI36
NG_011853.2:g.63695A>T
NG_011853.3:g.63695A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1921A>T MANE Select ENSP00000261304.2:p.Thr641Ser
ENST00000261304.6:c.1921A>T ENSP00000261304.2:p.Thr641Ser
ENST00000393568.8:c.1852A>T ENSP00000377198.4:p.Thr618Ser
ENST00000393569.6:c.1843A>T ENSP00000377199.2:p.Thr615Ser
ENST00000544807.6:c.1744-870A>T ENSP00000437513.2:n.1744-870A>T
ENST00000555000.5:c.1279-870A>T ENSP00000450472.1:n.1279-870A>T
ENST00000555179.1:c.457A>T
NM_000153.3:c.1921A>T NP_000144.2:p.Thr641Ser
NM_001201401.1:c.1852A>T NP_001188330.1:p.Thr618Ser
NM_001201402.1:c.1843A>T NP_001188331.1:p.Thr615Ser
XM_011536618.1:c.1753A>T XP_011534920.1:p.Thr585Ser
XM_011536618.2:c.1753A>T XP_011534920.1:p.Thr585Ser
NM_000153.4:c.1921A>T MANE Select NP_000144.2:p.Thr641Ser
NM_001201401.2:c.1852A>T NP_001188330.1:p.Thr618Ser
NM_001201402.2:c.1843A>T NP_001188331.1:p.Thr615Ser
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