Canonical Allele Identifier: CA9765701
Gene: SPTLC3 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.13072400T>C
GRCh37 chr20:g.13053048T>C
Revel Score:
ENST00000399002 (MANE Select) 0.497
ENST00000378194 0.497
ENST00000450297 0.497
gnomAD v2:
20:13053048 T / C
gnomAD v3:
20:13072400 T / C
gnomAD v4:
chr20-13072400-T-C
Joint Max Group AF 0.00003198 (NFE)
Exomes Max Group AF 0.00003365 (NFE)
ClinVar RCV:
RCV000235090
ClinVar Variation:
243088
dbSNP:
755919784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13072400T>C , CM000682.2:g.13072400T>C GRCh38
NC_000020.10:g.13053048T>C , CM000682.1:g.13053048T>C GRCh37
NC_000020.9:g.13001048T>C NCBI36
NG_053155.1:g.68422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399002.7:c.448T>C MANE Select ENSP00000381968.2:p.Trp150Arg
ENST00000399002.6:c.448T>C ENSP00000381968.2:p.Trp150Arg
ENST00000450297.1:c.367T>C ENSP00000409125.1:p.Trp123Arg
NM_018327.2:c.448T>C NP_060797.2:p.Trp150Arg
XM_011529278.1:c.448T>C XP_011527580.1:p.Trp150Arg
XM_011529279.1:c.448T>C XP_011527581.1:p.Trp150Arg
NM_001349945.1:c.448T>C NP_001336874.1:p.Trp150Arg
NM_018327.3:c.448T>C NP_060797.2:p.Trp150Arg
XM_017027922.1:c.448T>C XP_016883411.1:p.Trp150Arg
XR_001754317.1:n.505T>C
NM_018327.4:c.448T>C MANE Select NP_060797.2:p.Trp150Arg
NM_001349945.2:c.448T>C NP_001336874.1:p.Trp150Arg
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