Canonical Allele Identifier: CA9983467
Gene: C21orf91 HGNC NCBI
COSMIC:
COSM6350512 (not active)
MyVariant.info:
GRCh38 chr21:g.17796838G>C
GRCh37 chr21:g.19169155G>C
Revel Score:
ENST00000284881 (MANE Select) 0.151
ENST00000400559 0.151
ENST00000400558 0.151
ENST00000405964 0.151
gnomAD v2:
21:19169155 G / C
gnomAD v3:
21:17796838 G / C
gnomAD v4:
chr21-17796838-G-C
Joint Max Group AF 0.35729794 (EAS)
Genomes Max Group AF 0.34349555 (NFE)
Exomes Max Group AF 0.35920822 (EAS)
dbSNP:
1047978
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.17796838G>C , CM000683.2:g.17796838G>C GRCh38
NC_000021.8:g.19169155G>C , CM000683.1:g.19169155G>C GRCh37
NC_000021.7:g.18091026G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284881.9:c.408C>G MANE Select ENSP00000284881.4:p.Asp136Glu
ENST00000284881.8:c.408C>G ENSP00000284881.4:p.Asp136Glu
ENST00000400558.7:c.408C>G ENSP00000383403.3:p.Asp136Glu
ENST00000400559.7:c.408C>G ENSP00000383404.3:p.Asp136Glu
ENST00000405964.2:c.408C>G ENSP00000385566.2:p.Asp136Glu
ENST00000493464.1:n.629C>G
NM_001100420.1:c.408C>G NP_001093890.1:p.Asp136Glu
NM_001100421.1:c.408C>G NP_001093891.1:p.Asp136Glu
NM_017447.3:c.408C>G NP_059143.3:p.Asp136Glu
NM_001100420.2:c.408C>G MANE Select NP_001093890.1:p.Asp136Glu
NM_001100421.2:c.408C>G NP_001093891.1:p.Asp136Glu
NM_017447.4:c.408C>G NP_059143.3:p.Asp136Glu
Search 100 bp 5'
Search 100 bp 3'