Canonical Allele Identifier: CA408105044

Gene: ADAM33

Linked Data

• dbSNP Id: rs2146370281
• gnomAD v4: 20-3671680-C-G
• MyVariant Identifiers: chr20:g.3652327C>G (hg19) ; chr20:g.3671680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671680C>G , CM000682.2:g.3671680C>G	GRCh38
NC_000020.10:g.3652327C>G , CM000682.1:g.3652327C>G	GRCh37
NC_000020.9:g.3600327C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1806G>C MANE Select	ENSP00000348912.3:p.Gln602His
ENST00000350009.6:c.1806G>C	ENSP00000322550.5:p.Gln602His
ENST00000356518.6:c.1806G>C	ENSP00000348912.2:p.Gln602His
ENST00000379861.8:c.1806G>C	ENSP00000369190.4:p.Gln602His
ENST00000466620.5:n.1445G>C
ENST00000617732.1:c.*632-223G>C	ENSP00000483343.1:n.*632-223G>C
ENST00000619289.4:c.1446G>C	ENSP00000484600.1:p.Gln482His
NM_001282447.1:c.1806G>C	NP_001269376.1:p.Gln602His
NM_025220.3:c.1806G>C	NP_079496.1:p.Gln602His
NM_153202.2:c.1806G>C	NP_694882.1:p.Gln602His
XM_005260843.1:c.1845G>C	XP_005260900.1:p.Gln615His
XM_006723639.1:c.1845G>C	XP_006723702.1:p.Gln615His
XM_006723640.1:c.1836G>C	XP_006723703.1:p.Gln612His
XM_011529366.1:c.1842G>C	XP_011527668.1:p.Gln614His
XM_011529367.1:c.1803G>C	XP_011527669.1:p.Gln601His
XM_011529368.1:c.1845G>C	XP_011527670.1:p.Gln615His
XM_011529369.1:c.1813G>C	XP_011527671.1:p.Gly605Arg
XM_011529370.1:c.1813G>C	XP_011527672.1:p.Gly605Arg
XM_011529373.1:c.843G>C	XP_011527675.1:p.Gln281His
XR_937151.1:n.1949G>C
XR_937152.1:n.1949G>C
XR_937153.1:n.1830G>C
XR_937154.1:n.1830G>C
XR_937155.1:n.1751G>C
XR_937157.1:n.1753G>C
NM_001282447.2:c.1806G>C	NP_001269376.1:p.Gln602His
NM_025220.4:c.1806G>C	NP_079496.1:p.Gln602His
NM_153202.3:c.1806G>C	NP_694882.1:p.Gln602His
XM_011529373.2:c.843G>C	XP_011527675.1:p.Gln281His
XR_001754405.1:n.1917G>C
XR_002958534.1:n.2026G>C
NM_001282447.3:c.1806G>C	NP_001269376.1:p.Gln602His
NM_025220.5:c.1806G>C MANE Select	NP_079496.1:p.Gln602His
NM_153202.4:c.1806G>C	NP_694882.1:p.Gln602His