Canonical Allele Identifier: CA311000258

Gene: ADAM33

Linked Data

• dbSNP Id: rs371009830
• gnomAD v2: 20-3652374-C-A
• gnomAD v3: 20-3671727-C-A
• gnomAD v4: 20-3671727-C-A
• MyVariant Identifiers: chr20:g.3652374C>A (hg19) ; chr20:g.3671727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671727C>A , CM000682.2:g.3671727C>A	GRCh38
NC_000020.10:g.3652374C>A , CM000682.1:g.3652374C>A	GRCh37
NC_000020.9:g.3600374C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1759G>T MANE Select	ENSP00000348912.3:p.Ala587Ser
ENST00000350009.6:c.1759G>T	ENSP00000322550.5:p.Ala587Ser
ENST00000356518.6:c.1759G>T	ENSP00000348912.2:p.Ala587Ser
ENST00000379861.8:c.1759G>T	ENSP00000369190.4:p.Ala587Ser
ENST00000466620.5:n.1398G>T
ENST00000617732.1:c.*632-270G>T	ENSP00000483343.1:n.*632-270G>T
ENST00000619289.4:c.1399G>T	ENSP00000484600.1:p.Ala467Ser
NM_001282447.1:c.1759G>T	NP_001269376.1:p.Ala587Ser
NM_025220.3:c.1759G>T	NP_079496.1:p.Ala587Ser
NM_153202.2:c.1759G>T	NP_694882.1:p.Ala587Ser
XM_005260843.1:c.1798G>T	XP_005260900.1:p.Ala600Ser
XM_006723639.1:c.1798G>T	XP_006723702.1:p.Ala600Ser
XM_006723640.1:c.1789G>T	XP_006723703.1:p.Ala597Ser
XM_011529366.1:c.1795G>T	XP_011527668.1:p.Ala599Ser
XM_011529367.1:c.1756G>T	XP_011527669.1:p.Ala586Ser
XM_011529368.1:c.1798G>T	XP_011527670.1:p.Ala600Ser
XM_011529369.1:c.1766G>T	XP_011527671.1:p.Arg589Leu
XM_011529370.1:c.1766G>T	XP_011527672.1:p.Arg589Leu
XM_011529373.1:c.796G>T	XP_011527675.1:p.Ala266Ser
XR_937151.1:n.1902G>T
XR_937152.1:n.1902G>T
XR_937153.1:n.1783G>T
XR_937154.1:n.1783G>T
XR_937155.1:n.1704G>T
XR_937157.1:n.1706G>T
NM_001282447.2:c.1759G>T	NP_001269376.1:p.Ala587Ser
NM_025220.4:c.1759G>T	NP_079496.1:p.Ala587Ser
NM_153202.3:c.1759G>T	NP_694882.1:p.Ala587Ser
XM_011529373.2:c.796G>T	XP_011527675.1:p.Ala266Ser
XR_001754405.1:n.1870G>T
XR_002958534.1:n.1979G>T
NM_001282447.3:c.1759G>T	NP_001269376.1:p.Ala587Ser
NM_025220.5:c.1759G>T MANE Select	NP_079496.1:p.Ala587Ser
NM_153202.4:c.1759G>T	NP_694882.1:p.Ala587Ser