Canonical Allele Identifier: CA9745254

Gene: ADAM33

Linked Data

• dbSNP Id: rs774772975
• ExAC: 20:3652370 G / A
• gnomAD v2: 20-3652370-G-A
• gnomAD v3: 20-3671723-G-A
• gnomAD v4: 20-3671723-G-A
• MyVariant Identifiers: chr20:g.3652370G>A (hg19) ; chr20:g.3671723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671723G>A , CM000682.2:g.3671723G>A	GRCh38
NC_000020.10:g.3652370G>A , CM000682.1:g.3652370G>A	GRCh37
NC_000020.9:g.3600370G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1763C>T MANE Select	ENSP00000348912.3:p.Pro588Leu
ENST00000350009.6:c.1763C>T	ENSP00000322550.5:p.Pro588Leu
ENST00000356518.6:c.1763C>T	ENSP00000348912.2:p.Pro588Leu
ENST00000379861.8:c.1763C>T	ENSP00000369190.4:p.Pro588Leu
ENST00000466620.5:n.1402C>T
ENST00000617732.1:c.*632-266C>T	ENSP00000483343.1:n.*632-266C>T
ENST00000619289.4:c.1403C>T	ENSP00000484600.1:p.Pro468Leu
NM_001282447.1:c.1763C>T	NP_001269376.1:p.Pro588Leu
NM_025220.3:c.1763C>T	NP_079496.1:p.Pro588Leu
NM_153202.2:c.1763C>T	NP_694882.1:p.Pro588Leu
XM_005260843.1:c.1802C>T	XP_005260900.1:p.Pro601Leu
XM_006723639.1:c.1802C>T	XP_006723702.1:p.Pro601Leu
XM_006723640.1:c.1793C>T	XP_006723703.1:p.Pro598Leu
XM_011529366.1:c.1799C>T	XP_011527668.1:p.Pro600Leu
XM_011529367.1:c.1760C>T	XP_011527669.1:p.Pro587Leu
XM_011529368.1:c.1802C>T	XP_011527670.1:p.Pro601Leu
XM_011529369.1:c.1770C>T	XP_011527671.1:p.Thr590=
XM_011529370.1:c.1770C>T	XP_011527672.1:p.Thr590=
XM_011529373.1:c.800C>T	XP_011527675.1:p.Pro267Leu
XR_937151.1:n.1906C>T
XR_937152.1:n.1906C>T
XR_937153.1:n.1787C>T
XR_937154.1:n.1787C>T
XR_937155.1:n.1708C>T
XR_937157.1:n.1710C>T
NM_001282447.2:c.1763C>T	NP_001269376.1:p.Pro588Leu
NM_025220.4:c.1763C>T	NP_079496.1:p.Pro588Leu
NM_153202.3:c.1763C>T	NP_694882.1:p.Pro588Leu
XM_011529373.2:c.800C>T	XP_011527675.1:p.Pro267Leu
XR_001754405.1:n.1874C>T
XR_002958534.1:n.1983C>T
NM_001282447.3:c.1763C>T	NP_001269376.1:p.Pro588Leu
NM_025220.5:c.1763C>T MANE Select	NP_079496.1:p.Pro588Leu
NM_153202.4:c.1763C>T	NP_694882.1:p.Pro588Leu