Canonical Allele Identifier: CA408103560

Gene: ADAM33

Linked Data

• dbSNP Id: rs1182176070
• gnomAD v2: 20-3649978-T-G
• gnomAD v4: 20-3669331-T-G
• MyVariant Identifiers: chr20:g.3649978T>G (hg19) ; chr20:g.3669331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669331T>G , CM000682.2:g.3669331T>G	GRCh38
NC_000020.10:g.3649978T>G , CM000682.1:g.3649978T>G	GRCh37
NC_000020.9:g.3597978T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2372A>C MANE Select	ENSP00000348912.3:p.Lys791Thr
ENST00000350009.6:c.2294A>C	ENSP00000322550.5:p.Lys765Thr
ENST00000356518.6:c.2372A>C	ENSP00000348912.2:p.Lys791Thr
ENST00000379861.8:c.2372A>C	ENSP00000369190.4:p.Lys791Thr
ENST00000466620.5:n.1933A>C
ENST00000483362.1:n.1295A>C
ENST00000617732.1:c.*1059A>C	ENSP00000483343.1:n.*1059A>C
ENST00000619289.4:c.2012A>C	ENSP00000484600.1:p.Lys671Thr
NM_001282447.1:c.2372A>C	NP_001269376.1:p.Lys791Thr
NM_025220.3:c.2372A>C	NP_079496.1:p.Lys791Thr
NM_153202.2:c.2294A>C	NP_694882.1:p.Lys765Thr
XM_005260843.1:c.2411A>C	XP_005260900.1:p.Lys804Thr
XM_006723639.1:c.2411A>C	XP_006723702.1:p.Lys804Thr
XM_006723640.1:c.2402A>C	XP_006723703.1:p.Lys801Thr
XM_011529366.1:c.2408A>C	XP_011527668.1:p.Lys803Thr
XM_011529367.1:c.2369A>C	XP_011527669.1:p.Lys790Thr
XM_011529368.1:c.2333A>C	XP_011527670.1:p.Lys778Thr
XM_011529373.1:c.1409A>C	XP_011527675.1:p.Lys470Thr
XR_937151.1:n.2423A>C
XR_937152.1:n.2423A>C
XR_937153.1:n.2396A>C
XR_937154.1:n.2396A>C
XR_937155.1:n.2317A>C
XR_937157.1:n.2319A>C
NM_001282447.2:c.2372A>C	NP_001269376.1:p.Lys791Thr
NM_025220.4:c.2372A>C	NP_079496.1:p.Lys791Thr
NM_153202.3:c.2294A>C	NP_694882.1:p.Lys765Thr
XM_011529373.2:c.1409A>C	XP_011527675.1:p.Lys470Thr
XR_001754405.1:n.2483A>C
XR_002958534.1:n.2592A>C
NM_001282447.3:c.2372A>C	NP_001269376.1:p.Lys791Thr
NM_025220.5:c.2372A>C MANE Select	NP_079496.1:p.Lys791Thr
NM_153202.4:c.2294A>C	NP_694882.1:p.Lys765Thr