Canonical Allele Identifier: CA3115887
Gene: LRAT HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154744851T>C
GRCh37 chr4:g.155666003T>C
gnomAD v2:
4:155666003 T / C
gnomAD v3:
4:154744851 T / C
gnomAD v4:
chr4-154744851-T-C
Joint Max Group AF 0.0000884 (NFE)
Genomes Max Group AF 0.00011239 (NFE)
Exomes Max Group AF 0.000083 (NFE)
ClinVar RCV:
RCV001393546
ClinVar Variation:
1078570
dbSNP:
104893848
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154744851T>C , CM000666.2:g.154744851T>C GRCh38
NC_000004.11:g.155666003T>C , CM000666.1:g.155666003T>C GRCh37
NC_000004.10:g.155885453T>C NCBI36
NG_009110.1:g.5841T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336356.4:c.525T>C MANE Select ENSP00000337224.3:p.Ser175=
ENST00000336356.3:c.525T>C ENSP00000337224.3:p.Ser175=
ENST00000499392.1:n.472-3338T>C
ENST00000507827.5:c.525T>C ENSP00000426761.1:p.Ser175=
ENST00000510733.1:n.852T>C
NM_001301645.1:c.525T>C NP_001288574.1:p.Ser175=
NM_004744.4:c.525T>C NP_004735.2:p.Ser175=
XM_006714412.2:c.525T>C XP_006714475.1:p.Ser175=
XR_938793.1:n.861T>C
XR_938793.2:n.857T>C
NM_004744.5:c.525T>C MANE Select NP_004735.2:p.Ser175=
NM_001301645.2:c.525T>C NP_001288574.1:p.Ser175=
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