Canonical Allele Identifier: CA408103616

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3650001A>C (hg19) ; chr20:g.3669354A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669354A>C , CM000682.2:g.3669354A>C	GRCh38
NC_000020.10:g.3650001A>C , CM000682.1:g.3650001A>C	GRCh37
NC_000020.9:g.3598001A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2349T>G MANE Select	ENSP00000348912.3:p.His783Gln
ENST00000350009.6:c.2271T>G	ENSP00000322550.5:p.His757Gln
ENST00000356518.6:c.2349T>G	ENSP00000348912.2:p.His783Gln
ENST00000379861.8:c.2349T>G	ENSP00000369190.4:p.His783Gln
ENST00000466620.5:n.1910T>G
ENST00000483362.1:n.1272T>G
ENST00000617732.1:c.*1036T>G	ENSP00000483343.1:n.*1036T>G
ENST00000619289.4:c.1989T>G	ENSP00000484600.1:p.His663Gln
NM_001282447.1:c.2349T>G	NP_001269376.1:p.His783Gln
NM_025220.3:c.2349T>G	NP_079496.1:p.His783Gln
NM_153202.2:c.2271T>G	NP_694882.1:p.His757Gln
XM_005260843.1:c.2388T>G	XP_005260900.1:p.His796Gln
XM_006723639.1:c.2388T>G	XP_006723702.1:p.His796Gln
XM_006723640.1:c.2379T>G	XP_006723703.1:p.His793Gln
XM_011529366.1:c.2385T>G	XP_011527668.1:p.His795Gln
XM_011529367.1:c.2346T>G	XP_011527669.1:p.His782Gln
XM_011529368.1:c.2310T>G	XP_011527670.1:p.His770Gln
XM_011529373.1:c.1386T>G	XP_011527675.1:p.His462Gln
XR_937151.1:n.2400T>G
XR_937152.1:n.2400T>G
XR_937153.1:n.2373T>G
XR_937154.1:n.2373T>G
XR_937155.1:n.2294T>G
XR_937157.1:n.2296T>G
NM_001282447.2:c.2349T>G	NP_001269376.1:p.His783Gln
NM_025220.4:c.2349T>G	NP_079496.1:p.His783Gln
NM_153202.3:c.2271T>G	NP_694882.1:p.His757Gln
XM_011529373.2:c.1386T>G	XP_011527675.1:p.His462Gln
XR_001754405.1:n.2460T>G
XR_002958534.1:n.2569T>G
NM_001282447.3:c.2349T>G	NP_001269376.1:p.His783Gln
NM_025220.5:c.2349T>G MANE Select	NP_079496.1:p.His783Gln
NM_153202.4:c.2271T>G	NP_694882.1:p.His757Gln