Canonical Allele Identifier: CA408104757

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652109A>C (hg19) ; chr20:g.3671462A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671462A>C , CM000682.2:g.3671462A>C	GRCh38
NC_000020.10:g.3652109A>C , CM000682.1:g.3652109A>C	GRCh37
NC_000020.9:g.3600109A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.1940T>G MANE Select	ENSP00000348912.3:p.Phe647Cys
ENST00000350009.6:c.1906-117T>G	ENSP00000322550.5:n.1906-117T>G
ENST00000356518.6:c.1940T>G	ENSP00000348912.2:p.Phe647Cys
ENST00000379861.8:c.1940T>G	ENSP00000369190.4:p.Phe647Cys
ENST00000466620.5:n.1545-117T>G
ENST00000617732.1:c.*632-5T>G	ENSP00000483343.1:n.*632-5T>G
ENST00000619289.4:c.1580T>G	ENSP00000484600.1:p.Phe527Cys
NM_001282447.1:c.1940T>G	NP_001269376.1:p.Phe647Cys
NM_025220.3:c.1940T>G	NP_079496.1:p.Phe647Cys
NM_153202.2:c.1906-117T>G	NP_694882.1:n.1906-117T>G
XM_005260843.1:c.1979T>G	XP_005260900.1:p.Phe660Cys
XM_006723639.1:c.1979T>G	XP_006723702.1:p.Phe660Cys
XM_006723640.1:c.1970T>G	XP_006723703.1:p.Phe657Cys
XM_011529366.1:c.1976T>G	XP_011527668.1:p.Phe659Cys
XM_011529367.1:c.1937T>G	XP_011527669.1:p.Phe646Cys
XM_011529368.1:c.1945-117T>G	XP_011527670.1:n.1945-117T>G
XM_011529369.1:c.*39T>G	XP_011527671.1:n.*39T>G
XM_011529370.1:c.*5-117T>G	XP_011527672.1:n.*5-117T>G
XM_011529373.1:c.977T>G	XP_011527675.1:p.Phe326Cys
XR_937151.1:n.2083T>G
XR_937152.1:n.2083T>G
XR_937153.1:n.1964T>G
XR_937154.1:n.1964T>G
XR_937155.1:n.1885T>G
XR_937157.1:n.1887T>G
NM_001282447.2:c.1940T>G	NP_001269376.1:p.Phe647Cys
NM_025220.4:c.1940T>G	NP_079496.1:p.Phe647Cys
NM_153202.3:c.1906-117T>G	NP_694882.1:n.1906-117T>G
XM_011529373.2:c.977T>G	XP_011527675.1:p.Phe326Cys
XR_001754405.1:n.2051T>G
XR_002958534.1:n.2160T>G
NM_001282447.3:c.1940T>G	NP_001269376.1:p.Phe647Cys
NM_025220.5:c.1940T>G MANE Select	NP_079496.1:p.Phe647Cys
NM_153202.4:c.1906-117T>G	NP_694882.1:n.1906-117T>G