Canonical Allele Identifier: CA408103940

Gene: ADAM33

Linked Data

• dbSNP Id: rs2087496882
• gnomAD v4: 20-3671012-C-A
• MyVariant Identifiers: chr20:g.3651659C>A (hg19) ; chr20:g.3671012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671012C>A , CM000682.2:g.3671012C>A	GRCh38
NC_000020.10:g.3651659C>A , CM000682.1:g.3651659C>A	GRCh37
NC_000020.9:g.3599659C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2234G>T MANE Select	ENSP00000348912.3:p.Cys745Phe
ENST00000350009.6:c.2156G>T	ENSP00000322550.5:p.Cys719Phe
ENST00000356518.6:c.2234G>T	ENSP00000348912.2:p.Cys745Phe
ENST00000379861.8:c.2234G>T	ENSP00000369190.4:p.Cys745Phe
ENST00000466620.5:n.1795G>T
ENST00000617732.1:c.*921G>T	ENSP00000483343.1:n.*921G>T
ENST00000619289.4:c.1874G>T	ENSP00000484600.1:p.Cys625Phe
NM_001282447.1:c.2234G>T	NP_001269376.1:p.Cys745Phe
NM_025220.3:c.2234G>T	NP_079496.1:p.Cys745Phe
NM_153202.2:c.2156G>T	NP_694882.1:p.Cys719Phe
XM_005260843.1:c.2273G>T	XP_005260900.1:p.Cys758Phe
XM_006723639.1:c.2273G>T	XP_006723702.1:p.Cys758Phe
XM_006723640.1:c.2264G>T	XP_006723703.1:p.Cys755Phe
XM_011529366.1:c.2270G>T	XP_011527668.1:p.Cys757Phe
XM_011529367.1:c.2231G>T	XP_011527669.1:p.Cys744Phe
XM_011529368.1:c.2195G>T	XP_011527670.1:p.Cys732Phe
XM_011529373.1:c.1271G>T	XP_011527675.1:p.Cys424Phe
XR_937151.1:n.2377G>T
XR_937152.1:n.2377G>T
XR_937153.1:n.2258G>T
XR_937154.1:n.2258G>T
XR_937155.1:n.2179G>T
XR_937157.1:n.2181G>T
NM_001282447.2:c.2234G>T	NP_001269376.1:p.Cys745Phe
NM_025220.4:c.2234G>T	NP_079496.1:p.Cys745Phe
NM_153202.3:c.2156G>T	NP_694882.1:p.Cys719Phe
XM_011529373.2:c.1271G>T	XP_011527675.1:p.Cys424Phe
XR_001754405.1:n.2345G>T
XR_002958534.1:n.2454G>T
NM_001282447.3:c.2234G>T	NP_001269376.1:p.Cys745Phe
NM_025220.5:c.2234G>T MANE Select	NP_079496.1:p.Cys745Phe
NM_153202.4:c.2156G>T	NP_694882.1:p.Cys719Phe