Canonical Allele Identifier: CA424792596
Community Standard Title: NM_003183.6(ADAM17):c.678A>G (p.Lys226=)
Gene: ADAM17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9526186T>C , CM000664.2:g.9526186T>C GRCh38
NC_000002.11:g.9666315T>C , CM000664.1:g.9666315T>C GRCh37
NC_000002.10:g.9583766T>C NCBI36
NG_029873.1:g.34603A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003183.6:c.678A>G MANE Select NP_003174.3:p.Lys226=
ENST00000310823.8:c.678A>G MANE Select ENSP00000309968.3:p.Lys226=
NM_001382777.1:c.18A>G NP_001369706.1:p.Lys6=
NM_001382778.1:c.-225A>G NP_001369707.1:n.-225A>G
NM_003183.4:c.678A>G NP_003174.3:p.Lys226=
ENST00000310823.7:c.678A>G ENSP00000309968.3:p.Lys226=
ENST00000497134.5:c.678A>G ENSP00000418728.1:p.Lys226=
ENST00000618923.1:c.678A>G ENSP00000480552.1:p.Lys226=
ENST00000618923.2:c.678A>G ENSP00000480552.1:p.Lys226=
ENST00000647610.1:c.*228A>G ENSP00000497929.1:n.*228A>G
ENST00000647622.1:n.857A>G
ENST00000647979.1:c.*208A>G ENSP00000497542.1:n.*208A>G
ENST00000648548.1:n.905A>G
ENST00000648857.1:n.743A>G
ENST00000649068.2:n.857A>G
ENST00000649227.1:c.*439A>G ENSP00000497830.1:n.*439A>G
ENST00000649686.1:n.488A>G
ENST00000649972.1:n.936A>G
ENST00000650116.1:c.*459A>G ENSP00000497592.1:n.*459A>G
ENST00000650241.1:n.621A>G
ENST00000699315.1:n.468A>G
ENST00000699316.1:c.*581A>G ENSP00000514295.1:n.*581A>G
ENST00000699317.1:c.*59A>G ENSP00000514296.1:n.*59A>G
ENST00000699318.1:c.678A>G ENSP00000514297.1:p.Lys226=
ENST00000699319.1:n.984A>G
ENST00000699321.1:c.*59A>G ENSP00000514298.1:n.*59A>G
ENST00000699323.1:n.779A>G
ENST00000699324.1:c.678A>G ENSP00000514300.1:p.Lys226=
ENST00000699325.1:c.678A>G ENSP00000514301.1:p.Lys226=
ENST00000699326.1:n.791A>G
XM_011510375.1:c.585A>G XP_011508677.1:p.Lys195=
XM_011510375.3:c.585A>G XP_011508677.1:p.Lys195=
XM_011510376.1:c.18A>G XP_011508678.1:p.Lys6=
XM_011510376.3:c.18A>G XP_011508678.1:p.Lys6=
XM_017004785.2:c.-225A>G XP_016860274.1:n.-225A>G
XM_017004786.2:c.-225A>G XP_016860275.1:n.-225A>G
XM_024453056.1:c.-2152A>G XP_024308824.1:n.-2152A>G