Canonical Allele Identifier: CA7296934
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87941512T>C
GRCh37 chr14:g.88407856T>C
Revel Score:
ENST00000261304 (MANE Select) 0.176
ENST00000544807 0.176
ENST00000393569 0.176
ENST00000539620 0.176
ENST00000393568 0.176
gnomAD v2:
14:88407856 T / C
gnomAD v3:
14:87941512 T / C
gnomAD v4:
chr14-87941512-T-C
Joint Max Group AF 0.00154348 (AMR)
Genomes Max Group AF 0.00102995 (AMR)
Exomes Max Group AF 0.00159886 (AMR)
ClinVar RCV:
RCV000271252
RCV000812178
ClinVar Variation:
287587
dbSNP:
200219480
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87941512T>C , CM000676.2:g.87941512T>C GRCh38
NC_000014.8:g.88407856T>C , CM000676.1:g.88407856T>C GRCh37
NC_000014.7:g.87477609T>C NCBI36
NG_011853.2:g.57052A>G
NG_011853.3:g.57052A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1717A>G MANE Select ENSP00000261304.2:p.Thr573Ala
ENST00000261304.6:c.1717A>G ENSP00000261304.2:p.Thr573Ala
ENST00000393568.8:c.1648A>G ENSP00000377198.4:p.Thr550Ala
ENST00000393569.6:c.1639A>G ENSP00000377199.2:p.Thr547Ala
ENST00000544807.6:c.1549A>G ENSP00000437513.2:p.Thr517Ala
ENST00000555000.5:c.1084A>G ENSP00000450472.1:p.Thr362Ala
ENST00000555179.1:c.253A>G
ENST00000557316.5:c.*1115A>G ENSP00000452314.1:n.*1115A>G
NM_000153.3:c.1717A>G NP_000144.2:p.Thr573Ala
NM_001201401.1:c.1648A>G NP_001188330.1:p.Thr550Ala
NM_001201402.1:c.1639A>G NP_001188331.1:p.Thr547Ala
XM_011536618.1:c.1549A>G XP_011534920.1:p.Thr517Ala
XM_011536618.2:c.1549A>G XP_011534920.1:p.Thr517Ala
NM_000153.4:c.1717A>G MANE Select NP_000144.2:p.Thr573Ala
NM_001201401.2:c.1648A>G NP_001188330.1:p.Thr550Ala
NM_001201402.2:c.1639A>G NP_001188331.1:p.Thr547Ala
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