Canonical Allele Identifier: CA408104135

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3651753G>T (hg19) ; chr20:g.3671106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671106G>T , CM000682.2:g.3671106G>T	GRCh38
NC_000020.10:g.3651753G>T , CM000682.1:g.3651753G>T	GRCh37
NC_000020.9:g.3599753G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2140C>A MANE Select	ENSP00000348912.3:p.Leu714Met
ENST00000350009.6:c.2062C>A	ENSP00000322550.5:p.Leu688Met
ENST00000356518.6:c.2140C>A	ENSP00000348912.2:p.Leu714Met
ENST00000379861.8:c.2140C>A	ENSP00000369190.4:p.Leu714Met
ENST00000466620.5:n.1701C>A
ENST00000617732.1:c.*827C>A	ENSP00000483343.1:n.*827C>A
ENST00000619289.4:c.1780C>A	ENSP00000484600.1:p.Leu594Met
NM_001282447.1:c.2140C>A	NP_001269376.1:p.Leu714Met
NM_025220.3:c.2140C>A	NP_079496.1:p.Leu714Met
NM_153202.2:c.2062C>A	NP_694882.1:p.Leu688Met
XM_005260843.1:c.2179C>A	XP_005260900.1:p.Leu727Met
XM_006723639.1:c.2179C>A	XP_006723702.1:p.Leu727Met
XM_006723640.1:c.2170C>A	XP_006723703.1:p.Leu724Met
XM_011529366.1:c.2176C>A	XP_011527668.1:p.Leu726Met
XM_011529367.1:c.2137C>A	XP_011527669.1:p.Leu713Met
XM_011529368.1:c.2101C>A	XP_011527670.1:p.Leu701Met
XM_011529373.1:c.1177C>A	XP_011527675.1:p.Leu393Met
XR_937151.1:n.2283C>A
XR_937152.1:n.2283C>A
XR_937153.1:n.2164C>A
XR_937154.1:n.2164C>A
XR_937155.1:n.2085C>A
XR_937157.1:n.2087C>A
NM_001282447.2:c.2140C>A	NP_001269376.1:p.Leu714Met
NM_025220.4:c.2140C>A	NP_079496.1:p.Leu714Met
NM_153202.3:c.2062C>A	NP_694882.1:p.Leu688Met
XM_011529373.2:c.1177C>A	XP_011527675.1:p.Leu393Met
XR_001754405.1:n.2251C>A
XR_002958534.1:n.2360C>A
NM_001282447.3:c.2140C>A	NP_001269376.1:p.Leu714Met
NM_025220.5:c.2140C>A MANE Select	NP_079496.1:p.Leu714Met
NM_153202.4:c.2062C>A	NP_694882.1:p.Leu688Met