Canonical Allele Identifier: CA408103896

Gene: ADAM33

Linked Data

• dbSNP Id: rs2087397712
• MyVariant Identifiers: chr20:g.3650277C>G (hg19) ; chr20:g.3669630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669630C>G , CM000682.2:g.3669630C>G	GRCh38
NC_000020.10:g.3650277C>G , CM000682.1:g.3650277C>G	GRCh37
NC_000020.9:g.3598277C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2248G>C MANE Select	ENSP00000348912.3:p.Asp750His
ENST00000350009.6:c.2170G>C	ENSP00000322550.5:p.Asp724His
ENST00000356518.6:c.2248G>C	ENSP00000348912.2:p.Asp750His
ENST00000379861.8:c.2248G>C	ENSP00000369190.4:p.Asp750His
ENST00000466620.5:n.1809G>C
ENST00000483362.1:n.996G>C
ENST00000617732.1:c.*935G>C	ENSP00000483343.1:n.*935G>C
ENST00000619289.4:c.1888G>C	ENSP00000484600.1:p.Asp630His
NM_001282447.1:c.2248G>C	NP_001269376.1:p.Asp750His
NM_025220.3:c.2248G>C	NP_079496.1:p.Asp750His
NM_153202.2:c.2170G>C	NP_694882.1:p.Asp724His
XM_005260843.1:c.2287G>C	XP_005260900.1:p.Asp763His
XM_006723639.1:c.2287G>C	XP_006723702.1:p.Asp763His
XM_006723640.1:c.2278G>C	XP_006723703.1:p.Asp760His
XM_011529366.1:c.2284G>C	XP_011527668.1:p.Asp762His
XM_011529367.1:c.2245G>C	XP_011527669.1:p.Asp749His
XM_011529368.1:c.2209G>C	XP_011527670.1:p.Asp737His
XM_011529373.1:c.1285G>C	XP_011527675.1:p.Asp429His
XR_937151.1:n.2384-260G>C
XR_937152.1:n.2384-260G>C
XR_937153.1:n.2272G>C
XR_937154.1:n.2272G>C
XR_937155.1:n.2193G>C
XR_937157.1:n.2195G>C
NM_001282447.2:c.2248G>C	NP_001269376.1:p.Asp750His
NM_025220.4:c.2248G>C	NP_079496.1:p.Asp750His
NM_153202.3:c.2170G>C	NP_694882.1:p.Asp724His
XM_011529373.2:c.1285G>C	XP_011527675.1:p.Asp429His
XR_001754405.1:n.2359G>C
XR_002958534.1:n.2468G>C
NM_001282447.3:c.2248G>C	NP_001269376.1:p.Asp750His
NM_025220.5:c.2248G>C MANE Select	NP_079496.1:p.Asp750His
NM_153202.4:c.2170G>C	NP_694882.1:p.Asp724His