Canonical Allele Identifier: CA14758290
Gene: NCOA5 HGNC NCBI
COSMIC:
COSN19748745 (not active)
MyVariant.info:
GRCh38 chr20:g.46065308T>C
GRCh37 chr20:g.44693947T>C
gnomAD v2:
20:44693947 T / C
gnomAD v3:
20:46065308 T / C
gnomAD v4:
chr20-46065308-T-C
Joint Max Group AF 0.33073471 (EAS)
Genomes Max Group AF 0.31985923 (EAS)
Exomes Max Group AF 0.33075053 (EAS)
dbSNP:
2903908
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46065308T>C , CM000682.2:g.46065308T>C GRCh38
NC_000020.10:g.44693947T>C , CM000682.1:g.44693947T>C GRCh37
NC_000020.9:g.44127354T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290231.11:c.630-80A>G MANE Select ENSP00000290231.6:n.630-80A>G
ENST00000290231.10:c.630-80A>G ENSP00000290231.6:n.630-80A>G
NM_020967.2:c.630-80A>G NP_066018.1:n.630-80A>G
XM_005260474.2:c.315-80A>G XP_005260531.1:n.315-80A>G
XM_011528951.1:c.630-80A>G XP_011527253.1:n.630-80A>G
NM_001348148.1:c.315-80A>G NP_001335077.1:n.315-80A>G
NM_001348149.1:c.630-80A>G NP_001335078.1:n.630-80A>G
NM_001348150.1:c.441-80A>G NP_001335079.1:n.441-80A>G
NM_001348151.1:c.315-80A>G NP_001335080.1:n.315-80A>G
NM_020967.3:c.630-80A>G MANE Select NP_066018.1:n.630-80A>G
NM_001348148.2:c.315-80A>G NP_001335077.1:n.315-80A>G
NM_001348149.2:c.630-80A>G NP_001335078.1:n.630-80A>G
NM_001348150.2:c.441-80A>G NP_001335079.1:n.441-80A>G
NM_001348151.2:c.315-80A>G NP_001335080.1:n.315-80A>G
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