Canonical Allele Identifier: CA408105235

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652419G>C (hg19) ; chr20:g.3671772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671772G>C , CM000682.2:g.3671772G>C	GRCh38
NC_000020.10:g.3652419G>C , CM000682.1:g.3652419G>C	GRCh37
NC_000020.9:g.3600419G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1714C>G MANE Select	ENSP00000348912.3:p.Leu572Val
ENST00000350009.6:c.1714C>G	ENSP00000322550.5:p.Leu572Val
ENST00000356518.6:c.1714C>G	ENSP00000348912.2:p.Leu572Val
ENST00000379861.8:c.1714C>G	ENSP00000369190.4:p.Leu572Val
ENST00000466620.5:n.1353C>G
ENST00000617732.1:c.*632-315C>G	ENSP00000483343.1:n.*632-315C>G
ENST00000619289.4:c.1354C>G	ENSP00000484600.1:p.Leu452Val
NM_001282447.1:c.1714C>G	NP_001269376.1:p.Leu572Val
NM_025220.3:c.1714C>G	NP_079496.1:p.Leu572Val
NM_153202.2:c.1714C>G	NP_694882.1:p.Leu572Val
XM_005260843.1:c.1753C>G	XP_005260900.1:p.Leu585Val
XM_006723639.1:c.1753C>G	XP_006723702.1:p.Leu585Val
XM_006723640.1:c.1744C>G	XP_006723703.1:p.Leu582Val
XM_011529366.1:c.1750C>G	XP_011527668.1:p.Leu584Val
XM_011529367.1:c.1711C>G	XP_011527669.1:p.Leu571Val
XM_011529368.1:c.1753C>G	XP_011527670.1:p.Leu585Val
XM_011529369.1:c.1721C>G	XP_011527671.1:p.Pro574Arg
XM_011529370.1:c.1721C>G	XP_011527672.1:p.Pro574Arg
XM_011529373.1:c.751C>G	XP_011527675.1:p.Leu251Val
XR_937151.1:n.1857C>G
XR_937152.1:n.1857C>G
XR_937153.1:n.1738C>G
XR_937154.1:n.1738C>G
XR_937155.1:n.1659C>G
XR_937157.1:n.1661C>G
NM_001282447.2:c.1714C>G	NP_001269376.1:p.Leu572Val
NM_025220.4:c.1714C>G	NP_079496.1:p.Leu572Val
NM_153202.3:c.1714C>G	NP_694882.1:p.Leu572Val
XM_011529373.2:c.751C>G	XP_011527675.1:p.Leu251Val
XR_001754405.1:n.1825C>G
XR_002958534.1:n.1934C>G
NM_001282447.3:c.1714C>G	NP_001269376.1:p.Leu572Val
NM_025220.5:c.1714C>G MANE Select	NP_079496.1:p.Leu572Val
NM_153202.4:c.1714C>G	NP_694882.1:p.Leu572Val