Canonical Allele Identifier: CA9800863
Gene: REM1 HGNC NCBI
DEFB124 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.31476659G>A
GRCh37 chr20:g.30064462G>A
Revel Score:
ENST00000201979 (MANE Select) 0.146
gnomAD v2:
20:30064462 G / A
gnomAD v3:
20:31476659 G / A
gnomAD v4:
chr20-31476659-G-A
Joint Max Group AF 0.00185328 (SAS)
Genomes Max Group AF 0.00159404 (SAS)
Exomes Max Group AF 0.00181515 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31476659G>A , CM000682.2:g.31476659G>A GRCh38
NC_000020.10:g.30064462G>A , CM000682.1:g.30064462G>A GRCh37
NC_000020.9:g.29528123G>A NCBI36
NG_046939.1:g.6372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000201979.3:c.214G>A (REM1) MANE Select ENSP00000201979.2:p.Asp72Asn
ENST00000201979.2:c.214G>A (REM1) ENSP00000201979.2:p.Asp72Asn
ENST00000481595.1:n.99C>T (DEFB124)
NM_014012.5:c.214G>A (REM1) NP_054731.2:p.Asp72Asn
XM_005260404.1:c.214G>A (REM1) XP_005260461.1:p.Asp72Asn
XM_011528795.1:c.214G>A (REM1) XP_011527097.1:p.Asp72Asn
XM_017027833.1:c.214G>A (REM1) XP_016883322.1:p.Asp72Asn
NM_014012.6:c.214G>A (REM1) MANE Select NP_054731.2:p.Asp72Asn
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