Canonical Allele Identifier: CA2646588524
Gene: EVI5 HGNC NCBI

Linked Data

gnomAD v4: 1-92607741-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92607741A>G , CM000663.2:g.92607741A>G GRCh38
NC_000001.10:g.93073298A>G , CM000663.1:g.93073298A>G GRCh37
NC_000001.9:g.92845886A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000540033.3:c.1813-14T>C ENSP00000440826.2:n.1813-14T>C
ENST00000706843.1:c.1804-14T>C ENSP00000516584.1:n.1804-14T>C
ENST00000706845.1:c.*1661-14T>C ENSP00000516587.1:n.*1661-14T>C
ENST00000706846.1:c.1828-14T>C ENSP00000516588.1:n.1828-14T>C
ENST00000706867.1:c.1909-14T>C ENSP00000516594.1:n.1909-14T>C
ENST00000706868.1:c.1828-14T>C ENSP00000516595.1:n.1828-14T>C
ENST00000706869.1:n.310-3942T>C
ENST00000706883.1:c.616-14T>C ENSP00000516600.1:n.616-14T>C
ENST00000706885.1:c.1693-14T>C ENSP00000516601.1:n.1693-14T>C
ENST00000684568.2:c.1828-14T>C MANE Select ENSP00000506999.1:n.1828-14T>C
ENST00000370331.5:c.1780-14T>C ENSP00000359356.1:n.1780-14T>C
ENST00000468580.5:n.543-14T>C
ENST00000491940.5:n.633-14T>C
ENST00000492513.5:n.301-14T>C
ENST00000540033.2:c.1813-14T>C ENSP00000440826.2:n.1813-14T>C
NM_001308248.1:c.1813-14T>C NP_001295177.1:n.1813-14T>C
NM_005665.4:c.1780-14T>C NP_005656.4:n.1780-14T>C
NM_005665.5:c.1780-14T>C NP_005656.4:n.1780-14T>C
XM_011542099.1:c.2032-14T>C XP_011540401.1:n.2032-14T>C
XM_011542100.1:c.2032-14T>C XP_011540402.1:n.2032-14T>C
XM_011542101.1:c.1909-14T>C XP_011540403.1:n.1909-14T>C
XM_011542102.1:c.1885-14T>C XP_011540404.1:n.1885-14T>C
XM_011542103.1:c.2032-2339T>C XP_011540405.1:n.2032-2339T>C
XM_011542104.1:c.1873-14T>C XP_011540406.1:n.1873-14T>C
XM_011542105.1:c.1852-14T>C XP_011540407.1:n.1852-14T>C
XM_011542107.1:c.1780-14T>C XP_011540409.1:n.1780-14T>C
XM_011542108.1:c.2032-14T>C XP_011540410.1:n.2032-14T>C
XM_011542109.1:c.2032-14T>C XP_011540411.1:n.2032-14T>C
NM_001350197.1:c.1828-14T>C NP_001337126.1:n.1828-14T>C
NM_001350198.1:c.1828-14T>C NP_001337127.1:n.1828-14T>C
XM_017002269.1:c.2041-14T>C XP_016857758.1:n.2041-14T>C
XM_017002270.2:c.2032-14T>C XP_016857759.1:n.2032-14T>C
XM_017002271.2:c.1960-14T>C XP_016857760.1:n.1960-14T>C
XM_017002272.1:c.2041-14T>C XP_016857761.1:n.2041-14T>C
XM_017002273.2:c.1909-14T>C XP_016857762.1:n.1909-14T>C
XM_017002274.1:c.1909-14T>C XP_016857763.1:n.1909-14T>C
XM_017002275.1:c.1909-14T>C XP_016857764.1:n.1909-14T>C
XM_017002276.2:c.1828-14T>C XP_016857765.1:n.1828-14T>C
XM_017002277.1:c.1813-14T>C XP_016857766.1:n.1813-14T>C
XM_017002278.1:c.1894-14T>C XP_016857767.1:n.1894-14T>C
XM_017002279.1:c.1774-14T>C XP_016857768.1:n.1774-14T>C
XM_017002281.2:c.1804-14T>C XP_016857770.1:n.1804-14T>C
XM_017002282.1:c.2041-14T>C XP_016857771.1:n.2041-14T>C
XM_017002283.1:c.1960-14T>C XP_016857772.1:n.1960-14T>C
XM_017002284.2:c.1681-14T>C XP_016857773.1:n.1681-14T>C
XM_017002286.2:c.1417-14T>C XP_016857775.1:n.1417-14T>C
XM_017002287.2:c.1417-14T>C XP_016857776.1:n.1417-14T>C
XM_017002288.1:c.1417-14T>C XP_016857777.1:n.1417-14T>C
XM_024449686.1:c.1960-14T>C XP_024305454.1:n.1960-14T>C
XM_024449689.1:c.1861-14T>C XP_024305457.1:n.1861-14T>C
XM_024449690.1:c.1693-14T>C XP_024305458.1:n.1693-14T>C
NM_001308248.2:c.1813-14T>C NP_001295177.1:n.1813-14T>C
NM_001350197.2:c.1828-14T>C MANE Select NP_001337126.1:n.1828-14T>C
NM_001350198.2:c.1828-14T>C NP_001337127.1:n.1828-14T>C
NM_001377210.1:c.1804-14T>C NP_001364139.1:n.1804-14T>C
NM_001377211.1:c.1786-14T>C NP_001364140.1:n.1786-14T>C
NM_001377212.1:c.1681-14T>C NP_001364141.1:n.1681-14T>C
NM_001377213.1:c.1909-14T>C NP_001364142.1:n.1909-14T>C
NM_005665.6:c.1780-14T>C NP_005656.4:n.1780-14T>C