Canonical Allele Identifier: CA9745066

Gene: ADAM33

Linked Data

• dbSNP Id: rs758281279
• ExAC: 20:3650247 C / T
• gnomAD v2: 20-3650247-C-T
• gnomAD v3: 20-3669600-C-T
• gnomAD v4: 20-3669600-C-T
• COSMIC: COSM6004524
• MyVariant Identifiers: chr20:g.3650247C>T (hg19) ; chr20:g.3669600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669600C>T , CM000682.2:g.3669600C>T	GRCh38
NC_000020.10:g.3650247C>T , CM000682.1:g.3650247C>T	GRCh37
NC_000020.9:g.3598247C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2278G>A MANE Select	ENSP00000348912.3:p.Gly760Ser
ENST00000350009.6:c.2200G>A	ENSP00000322550.5:p.Gly734Ser
ENST00000356518.6:c.2278G>A	ENSP00000348912.2:p.Gly760Ser
ENST00000379861.8:c.2278G>A	ENSP00000369190.4:p.Gly760Ser
ENST00000466620.5:n.1839G>A
ENST00000483362.1:n.1026G>A
ENST00000617732.1:c.*965G>A	ENSP00000483343.1:n.*965G>A
ENST00000619289.4:c.1918G>A	ENSP00000484600.1:p.Gly640Ser
NM_001282447.1:c.2278G>A	NP_001269376.1:p.Gly760Ser
NM_025220.3:c.2278G>A	NP_079496.1:p.Gly760Ser
NM_153202.2:c.2200G>A	NP_694882.1:p.Gly734Ser
XM_005260843.1:c.2317G>A	XP_005260900.1:p.Gly773Ser
XM_006723639.1:c.2317G>A	XP_006723702.1:p.Gly773Ser
XM_006723640.1:c.2308G>A	XP_006723703.1:p.Gly770Ser
XM_011529366.1:c.2314G>A	XP_011527668.1:p.Gly772Ser
XM_011529367.1:c.2275G>A	XP_011527669.1:p.Gly759Ser
XM_011529368.1:c.2239G>A	XP_011527670.1:p.Gly747Ser
XM_011529373.1:c.1315G>A	XP_011527675.1:p.Gly439Ser
XR_937151.1:n.2384-230G>A
XR_937152.1:n.2384-230G>A
XR_937153.1:n.2302G>A
XR_937154.1:n.2302G>A
XR_937155.1:n.2223G>A
XR_937157.1:n.2225G>A
NM_001282447.2:c.2278G>A	NP_001269376.1:p.Gly760Ser
NM_025220.4:c.2278G>A	NP_079496.1:p.Gly760Ser
NM_153202.3:c.2200G>A	NP_694882.1:p.Gly734Ser
XM_011529373.2:c.1315G>A	XP_011527675.1:p.Gly439Ser
XR_001754405.1:n.2389G>A
XR_002958534.1:n.2498G>A
NM_001282447.3:c.2278G>A	NP_001269376.1:p.Gly760Ser
NM_025220.5:c.2278G>A MANE Select	NP_079496.1:p.Gly760Ser
NM_153202.4:c.2200G>A	NP_694882.1:p.Gly734Ser