Canonical Allele Identifier: CA3713769
Gene: LTA HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31572779T>C
GRCh37 chr6:g.31540556T>C
Revel Score:
ENST00000454783 0.037
ENST00000418386 (MANE Select) 0.037
ENST00000436827 0.037
gnomAD v2:
6:31540556 T / C
gnomAD v3:
6:31572779 T / C
gnomAD v4:
chr6-31572779-T-C
Joint Max Group AF 0.33090919 (SAS)
Genomes Max Group AF 0.32126179 (SAS)
Exomes Max Group AF 0.33077489 (SAS)
ClinVar RCV:
RCV003974612
ClinVar Variation:
3059641
dbSNP:
2229094
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31572779T>C , CM000668.2:g.31572779T>C GRCh38
NC_000006.11:g.31540556T>C , CM000668.1:g.31540556T>C GRCh37
NC_000006.10:g.31648535T>C NCBI36
NG_007462.1:g.2207T>C
NG_012010.1:g.5681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000418386.3:c.37T>C MANE Select ENSP00000413450.2:p.Cys13Arg
ENST00000418386.2:c.37T>C ENSP00000413450.2:p.Cys13Arg
ENST00000454783.5:c.37T>C ENSP00000403495.1:p.Cys13Arg
ENST00000471842.1:n.199T>C
ENST00000489638.5:n.79T>C
NM_000595.3:c.37T>C NP_000586.2:p.Cys13Arg
NM_001159740.2:c.37T>C NP_001153212.1:p.Cys13Arg
XM_011514614.1:c.37T>C XP_011512916.1:p.Cys13Arg
XM_011514615.1:c.37T>C XP_011512917.1:p.Cys13Arg
XM_011514616.1:c.37T>C XP_011512918.1:p.Cys13Arg
XM_011514617.1:c.37T>C XP_011512919.1:p.Cys13Arg
XM_011514618.1:c.37T>C XP_011512920.1:p.Cys13Arg
XM_011514615.2:c.37T>C XP_011512917.1:p.Cys13Arg
XM_011514616.2:c.37T>C XP_011512918.1:p.Cys13Arg
XM_011514617.2:c.37T>C XP_011512919.1:p.Cys13Arg
NM_000595.4:c.37T>C MANE Select NP_000586.2:p.Cys13Arg
Search 100 bp 5'
Search 100 bp 3'