Canonical Allele Identifier: CA1523399

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9494727A>G , CM000664.2:g.9494727A>G GRCh38
NC_000002.11:g.9634856A>G , CM000664.1:g.9634856A>G GRCh37
NC_000002.10:g.9552307A>G NCBI36
NG_029873.1:g.66062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699315.1:n.1614T>C (ADAM17)
ENST00000699316.1:c.*1727T>C (ADAM17) ENSP00000514295.1:n.*1727T>C
ENST00000699317.1:c.*3137T>C (ADAM17) ENSP00000514296.1:n.*3137T>C
ENST00000699318.1:c.1734T>C (ADAM17) ENSP00000514297.1:p.Ser578=
ENST00000699319.1:n.4062T>C (ADAM17)
ENST00000699320.1:n.965T>C (ADAM17)
ENST00000699321.1:c.*1205T>C (ADAM17) ENSP00000514298.1:n.*1205T>C
ENST00000310823.8:c.1824T>C (ADAM17) MANE Select ENSP00000309968.3:p.Ser608=
ENST00000647610.1:c.*1284T>C (ADAM17) ENSP00000497929.1:n.*1284T>C
ENST00000647979.1:c.*1354T>C (ADAM17) ENSP00000497542.1:n.*1354T>C
ENST00000648548.1:n.2051T>C (ADAM17)
ENST00000648857.1:n.1894T>C (ADAM17)
ENST00000649227.1:c.*1585T>C (ADAM17) ENSP00000497830.1:n.*1585T>C
ENST00000649686.1:n.1634T>C (ADAM17)
ENST00000650116.1:c.*1605T>C (ADAM17) ENSP00000497592.1:n.*1605T>C
ENST00000310823.7:c.1824T>C (ADAM17) ENSP00000309968.3:p.Ser608=
ENST00000481367.5:c.775A>G (IAH1)
NM_003183.4:c.1824T>C (ADAM17) NP_003174.3:p.Ser608=
XM_011510375.1:c.1731T>C (ADAM17) XP_011508677.1:p.Ser577=
XM_011510376.1:c.1164T>C (ADAM17) XP_011508678.1:p.Ser388=
XM_011510377.1:c.927T>C (ADAM17) XP_011508679.1:p.Ser309=
XM_011510378.1:c.927T>C (ADAM17) XP_011508680.1:p.Ser309=
XR_426950.2:n.871A>G (IAH1)
XR_426953.2:n.786A>G (IAH1)
XR_922675.1:n.871A>G (IAH1)
XR_922676.1:n.871A>G (IAH1)
XR_922677.1:n.871A>G (IAH1)
XR_922678.1:n.871A>G (IAH1)
NM_003183.6:c.1824T>C (ADAM17) MANE Select NP_003174.3:p.Ser608=
XM_011510375.3:c.1731T>C (ADAM17) XP_011508677.1:p.Ser577=
XM_011510376.3:c.1164T>C (ADAM17) XP_011508678.1:p.Ser388=
XM_017004785.2:c.927T>C (ADAM17) XP_016860274.1:p.Ser309=
XM_017004786.2:c.927T>C (ADAM17) XP_016860275.1:p.Ser309=
XM_024453056.1:c.927T>C (ADAM17) XP_024308824.1:p.Ser309=
XR_001738718.1:n.871A>G (IAH1)
XR_001738721.1:n.871A>G (IAH1)
XR_001738722.1:n.786A>G (IAH1)
XR_001738723.1:n.786A>G (IAH1)
XR_001738724.1:n.786A>G (IAH1)
XR_002959279.1:n.1443A>G (IAH1)
XR_002959280.1:n.1443A>G (IAH1)
XR_002959281.1:n.1443A>G (IAH1)
XR_002959282.1:n.871A>G (IAH1)
XR_426953.3:n.786A>G (IAH1)
NM_001382777.1:c.1164T>C (ADAM17) NP_001369706.1:p.Ser388=
NM_001382778.1:c.927T>C (ADAM17) NP_001369707.1:p.Ser309=