Canonical Allele Identifier: CA9765701
Gene: SPTLC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 243088
ClinVar RCV Id: RCV000235090
dbSNP Id: rs755919784
ExAC: 20:13053048 T / C
gnomAD v2: 20-13053048-T-C
gnomAD v3: 20-13072400-T-C
gnomAD v4: 20-13072400-T-C
MyVariant Identifiers: chr20:g.13053048T>C (hg19) chr20:g.13072400T>C (hg38)
PubMed: PMID:26257172
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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
Search 100 bp 5'
Search 100 bp 3'