Canonical Allele Identifier: CA408103417

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3649620C>A (hg19) ; chr20:g.3668973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668973C>A , CM000682.2:g.3668973C>A	GRCh38
NC_000020.10:g.3649620C>A , CM000682.1:g.3649620C>A	GRCh37
NC_000020.9:g.3597620C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2432G>T MANE Select	ENSP00000348912.3:p.Cys811Phe
ENST00000350009.6:c.2354G>T	ENSP00000322550.5:p.Cys785Phe
ENST00000356518.6:c.2432G>T	ENSP00000348912.2:p.Cys811Phe
ENST00000379861.8:c.2429G>T	ENSP00000369190.4:p.Cys810Phe
ENST00000466620.5:n.1993G>T
ENST00000483362.1:n.1355G>T
ENST00000617732.1:c.*1116G>T	ENSP00000483343.1:n.*1116G>T
ENST00000619289.4:c.2069G>T	ENSP00000484600.1:p.Cys690Phe
NM_001282447.1:c.2429G>T	NP_001269376.1:p.Cys810Phe
NM_025220.3:c.2432G>T	NP_079496.1:p.Cys811Phe
NM_153202.2:c.2354G>T	NP_694882.1:p.Cys785Phe
XM_005260843.1:c.2471G>T	XP_005260900.1:p.Cys824Phe
XM_006723639.1:c.2468G>T	XP_006723702.1:p.Cys823Phe
XM_006723640.1:c.2462G>T	XP_006723703.1:p.Cys821Phe
XM_011529366.1:c.2468G>T	XP_011527668.1:p.Cys823Phe
XM_011529367.1:c.2429G>T	XP_011527669.1:p.Cys810Phe
XM_011529368.1:c.2393G>T	XP_011527670.1:p.Cys798Phe
XM_011529373.1:c.1469G>T	XP_011527675.1:p.Cys490Phe
XR_937151.1:n.2483G>T
XR_937152.1:n.2480G>T
XR_937153.1:n.2453G>T
XR_937154.1:n.2453G>T
XR_937155.1:n.2374G>T
XR_937157.1:n.2376G>T
NM_001282447.2:c.2429G>T	NP_001269376.1:p.Cys810Phe
NM_025220.4:c.2432G>T	NP_079496.1:p.Cys811Phe
NM_153202.3:c.2354G>T	NP_694882.1:p.Cys785Phe
XM_011529373.2:c.1469G>T	XP_011527675.1:p.Cys490Phe
XR_001754405.1:n.2540G>T
XR_002958534.1:n.2649G>T
NM_001282447.3:c.2429G>T	NP_001269376.1:p.Cys810Phe
NM_025220.5:c.2432G>T MANE Select	NP_079496.1:p.Cys811Phe
NM_153202.4:c.2354G>T	NP_694882.1:p.Cys785Phe