Canonical Allele Identifier: CA145810
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87934869T>C
GRCh37 chr14:g.88401213T>C
Revel Score:
ENST00000261304 (MANE Select) 0.263
ENST00000393569 0.263
ENST00000539620 0.263
ENST00000393568 0.263
gnomAD v2:
14:88401213 T / C
gnomAD v3:
14:87934869 T / C
gnomAD v4:
chr14-87934869-T-C
Joint Max Group AF 0.99805054 (NFE)
Genomes Max Group AF 0.99277662 (NFE)
Exomes Max Group AF 0.99803556 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1921A>G MANE Select ENSP00000261304.2:p.Thr641Ala
ENST00000261304.6:c.1921A>G ENSP00000261304.2:p.Thr641Ala
ENST00000393568.8:c.1852A>G ENSP00000377198.4:p.Thr618Ala
ENST00000393569.6:c.1843A>G ENSP00000377199.2:p.Thr615Ala
ENST00000544807.6:c.1744-870A>G ENSP00000437513.2:n.1744-870A>G
ENST00000555000.5:c.1279-870A>G ENSP00000450472.1:n.1279-870A>G
ENST00000555179.1:c.457A>G
NM_000153.3:c.1921A>G NP_000144.2:p.Thr641Ala
NM_001201401.1:c.1852A>G NP_001188330.1:p.Thr618Ala
NM_001201402.1:c.1843A>G NP_001188331.1:p.Thr615Ala
XM_011536618.1:c.1753A>G XP_011534920.1:p.Thr585Ala
XM_011536618.2:c.1753A>G XP_011534920.1:p.Thr585Ala
NM_000153.4:c.1921A>G MANE Select NP_000144.2:p.Thr641Ala
NM_001201401.2:c.1852A>G NP_001188330.1:p.Thr618Ala
NM_001201402.2:c.1843A>G NP_001188331.1:p.Thr615Ala
Search 100 bp 5'
Search 100 bp 3'