Canonical Allele Identifier: CA408104735

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652100A>G (hg19) ; chr20:g.3671453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671453A>G , CM000682.2:g.3671453A>G	GRCh38
NC_000020.10:g.3652100A>G , CM000682.1:g.3652100A>G	GRCh37
NC_000020.9:g.3600100A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1949T>C MANE Select	ENSP00000348912.3:p.Leu650Pro
ENST00000350009.6:c.1906-108T>C	ENSP00000322550.5:n.1906-108T>C
ENST00000356518.6:c.1949T>C	ENSP00000348912.2:p.Leu650Pro
ENST00000379861.8:c.1949T>C	ENSP00000369190.4:p.Leu650Pro
ENST00000466620.5:n.1545-108T>C
ENST00000617732.1:c.*636T>C	ENSP00000483343.1:n.*636T>C
ENST00000619289.4:c.1589T>C	ENSP00000484600.1:p.Leu530Pro
NM_001282447.1:c.1949T>C	NP_001269376.1:p.Leu650Pro
NM_025220.3:c.1949T>C	NP_079496.1:p.Leu650Pro
NM_153202.2:c.1906-108T>C	NP_694882.1:n.1906-108T>C
XM_005260843.1:c.1988T>C	XP_005260900.1:p.Leu663Pro
XM_006723639.1:c.1988T>C	XP_006723702.1:p.Leu663Pro
XM_006723640.1:c.1979T>C	XP_006723703.1:p.Leu660Pro
XM_011529366.1:c.1985T>C	XP_011527668.1:p.Leu662Pro
XM_011529367.1:c.1946T>C	XP_011527669.1:p.Leu649Pro
XM_011529368.1:c.1945-108T>C	XP_011527670.1:n.1945-108T>C
XM_011529369.1:c.*48T>C	XP_011527671.1:n.*48T>C
XM_011529370.1:c.*5-108T>C	XP_011527672.1:n.*5-108T>C
XM_011529373.1:c.986T>C	XP_011527675.1:p.Leu329Pro
XR_937151.1:n.2092T>C
XR_937152.1:n.2092T>C
XR_937153.1:n.1973T>C
XR_937154.1:n.1973T>C
XR_937155.1:n.1894T>C
XR_937157.1:n.1896T>C
NM_001282447.2:c.1949T>C	NP_001269376.1:p.Leu650Pro
NM_025220.4:c.1949T>C	NP_079496.1:p.Leu650Pro
NM_153202.3:c.1906-108T>C	NP_694882.1:n.1906-108T>C
XM_011529373.2:c.986T>C	XP_011527675.1:p.Leu329Pro
XR_001754405.1:n.2060T>C
XR_002958534.1:n.2169T>C
NM_001282447.3:c.1949T>C	NP_001269376.1:p.Leu650Pro
NM_025220.5:c.1949T>C MANE Select	NP_079496.1:p.Leu650Pro
NM_153202.4:c.1906-108T>C	NP_694882.1:n.1906-108T>C