Canonical Allele Identifier: CA216844637

Gene: ADAM8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133268862G>A , CM000672.2:g.133268862G>A	GRCh38
NC_000010.10:g.135082366G>A , CM000672.1:g.135082366G>A	GRCh37
NC_000010.9:g.134932356G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001109.5:c.1949C>T MANE Select	NP_001100.3:p.Ala650Val
ENST00000445355.8:c.1949C>T MANE Select	ENSP00000453302.1:p.Ala650Val
NM_001109.4:c.1949C>T	NP_001100.3:p.Ala650Val
NM_001164489.1:c.1948+583C>T	NP_001157961.1:n.1948+583C>T
NM_001164489.2:c.1948+583C>T	NP_001157961.1:n.1948+583C>T
NM_001164490.1:c.1754C>T	NP_001157962.1:p.Ala585Val
NM_001164490.2:c.1754C>T	NP_001157962.1:p.Ala585Val
ENST00000415217.7:c.1948+583C>T	ENSP00000453855.1:n.1948+583C>T
ENST00000445355.7:c.1949C>T	ENSP00000453302.1:p.Ala650Val
ENST00000485491.6:c.1754C>T	ENSP00000453043.1:p.Ala585Val
XM_011539116.1:c.2018C>T	XP_011537418.1:p.Ala673Val
XM_011539117.1:c.2018C>T	XP_011537419.1:p.Ala673Val
XM_011539117.2:c.2144C>T	XP_011537419.2:p.Ala715Val
XM_011539118.1:c.1874C>T	XP_011537420.1:p.Ala625Val
XM_017015465.1:c.2144C>T	XP_016870954.1:p.Ala715Val
XM_017015466.1:c.*117C>T	XP_016870955.1:n.*117C>T