Canonical Allele Identifier: CA408104737

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652101G>T (hg19) ; chr20:g.3671454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671454G>T , CM000682.2:g.3671454G>T	GRCh38
NC_000020.10:g.3652101G>T , CM000682.1:g.3652101G>T	GRCh37
NC_000020.9:g.3600101G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1948C>A MANE Select	ENSP00000348912.3:p.Leu650Ile
ENST00000350009.6:c.1906-109C>A	ENSP00000322550.5:n.1906-109C>A
ENST00000356518.6:c.1948C>A	ENSP00000348912.2:p.Leu650Ile
ENST00000379861.8:c.1948C>A	ENSP00000369190.4:p.Leu650Ile
ENST00000466620.5:n.1545-109C>A
ENST00000617732.1:c.*635C>A	ENSP00000483343.1:n.*635C>A
ENST00000619289.4:c.1588C>A	ENSP00000484600.1:p.Leu530Ile
NM_001282447.1:c.1948C>A	NP_001269376.1:p.Leu650Ile
NM_025220.3:c.1948C>A	NP_079496.1:p.Leu650Ile
NM_153202.2:c.1906-109C>A	NP_694882.1:n.1906-109C>A
XM_005260843.1:c.1987C>A	XP_005260900.1:p.Leu663Ile
XM_006723639.1:c.1987C>A	XP_006723702.1:p.Leu663Ile
XM_006723640.1:c.1978C>A	XP_006723703.1:p.Leu660Ile
XM_011529366.1:c.1984C>A	XP_011527668.1:p.Leu662Ile
XM_011529367.1:c.1945C>A	XP_011527669.1:p.Leu649Ile
XM_011529368.1:c.1945-109C>A	XP_011527670.1:n.1945-109C>A
XM_011529369.1:c.*47C>A	XP_011527671.1:n.*47C>A
XM_011529370.1:c.*5-109C>A	XP_011527672.1:n.*5-109C>A
XM_011529373.1:c.985C>A	XP_011527675.1:p.Leu329Ile
XR_937151.1:n.2091C>A
XR_937152.1:n.2091C>A
XR_937153.1:n.1972C>A
XR_937154.1:n.1972C>A
XR_937155.1:n.1893C>A
XR_937157.1:n.1895C>A
NM_001282447.2:c.1948C>A	NP_001269376.1:p.Leu650Ile
NM_025220.4:c.1948C>A	NP_079496.1:p.Leu650Ile
NM_153202.3:c.1906-109C>A	NP_694882.1:n.1906-109C>A
XM_011529373.2:c.985C>A	XP_011527675.1:p.Leu329Ile
XR_001754405.1:n.2059C>A
XR_002958534.1:n.2168C>A
NM_001282447.3:c.1948C>A	NP_001269376.1:p.Leu650Ile
NM_025220.5:c.1948C>A MANE Select	NP_079496.1:p.Leu650Ile
NM_153202.4:c.1906-109C>A	NP_694882.1:n.1906-109C>A