Canonical Allele Identifier: CA9745030

Gene: ADAM33

Linked Data

• dbSNP Id: rs771056505
• ExAC: 20:3649977 C / T
• gnomAD v2: 20-3649977-C-T
• gnomAD v4: 20-3669330-C-T
• MyVariant Identifiers: chr20:g.3649977C>T (hg19) ; chr20:g.3669330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669330C>T , CM000682.2:g.3669330C>T	GRCh38
NC_000020.10:g.3649977C>T , CM000682.1:g.3649977C>T	GRCh37
NC_000020.9:g.3597977C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2373G>A MANE Select	ENSP00000348912.3:p.Lys791=
ENST00000350009.6:c.2295G>A	ENSP00000322550.5:p.Lys765=
ENST00000356518.6:c.2373G>A	ENSP00000348912.2:p.Lys791=
ENST00000379861.8:c.2373G>A	ENSP00000369190.4:p.Lys791=
ENST00000466620.5:n.1934G>A
ENST00000483362.1:n.1296G>A
ENST00000617732.1:c.*1060G>A	ENSP00000483343.1:n.*1060G>A
ENST00000619289.4:c.2013G>A	ENSP00000484600.1:p.Lys671=
NM_001282447.1:c.2373G>A	NP_001269376.1:p.Lys791=
NM_025220.3:c.2373G>A	NP_079496.1:p.Lys791=
NM_153202.2:c.2295G>A	NP_694882.1:p.Lys765=
XM_005260843.1:c.2412G>A	XP_005260900.1:p.Lys804=
XM_006723639.1:c.2412G>A	XP_006723702.1:p.Lys804=
XM_006723640.1:c.2403G>A	XP_006723703.1:p.Lys801=
XM_011529366.1:c.2409G>A	XP_011527668.1:p.Lys803=
XM_011529367.1:c.2370G>A	XP_011527669.1:p.Lys790=
XM_011529368.1:c.2334G>A	XP_011527670.1:p.Lys778=
XM_011529373.1:c.1410G>A	XP_011527675.1:p.Lys470=
XR_937151.1:n.2424G>A
XR_937152.1:n.2424G>A
XR_937153.1:n.2397G>A
XR_937154.1:n.2397G>A
XR_937155.1:n.2318G>A
XR_937157.1:n.2320G>A
NM_001282447.2:c.2373G>A	NP_001269376.1:p.Lys791=
NM_025220.4:c.2373G>A	NP_079496.1:p.Lys791=
NM_153202.3:c.2295G>A	NP_694882.1:p.Lys765=
XM_011529373.2:c.1410G>A	XP_011527675.1:p.Lys470=
XR_001754405.1:n.2484G>A
XR_002958534.1:n.2593G>A
NM_001282447.3:c.2373G>A	NP_001269376.1:p.Lys791=
NM_025220.5:c.2373G>A MANE Select	NP_079496.1:p.Lys791=
NM_153202.4:c.2295G>A	NP_694882.1:p.Lys765=