Canonical Allele Identifier: CA9744990

Gene: ADAM33

Linked Data

• dbSNP Id: rs137919189
• ExAC: 20:3649618 G / A
• gnomAD v2: 20-3649618-G-A
• gnomAD v3: 20-3668971-G-A
• gnomAD v4: 20-3668971-G-A
• MyVariant Identifiers: chr20:g.3649618G>A (hg19) ; chr20:g.3668971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668971G>A , CM000682.2:g.3668971G>A	GRCh38
NC_000020.10:g.3649618G>A , CM000682.1:g.3649618G>A	GRCh37
NC_000020.9:g.3597618G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2434C>T MANE Select	ENSP00000348912.3:p.Leu812Phe
ENST00000350009.6:c.2356C>T	ENSP00000322550.5:p.Leu786Phe
ENST00000356518.6:c.2434C>T	ENSP00000348912.2:p.Leu812Phe
ENST00000379861.8:c.2431C>T	ENSP00000369190.4:p.Leu811Phe
ENST00000466620.5:n.1995C>T
ENST00000483362.1:n.1357C>T
ENST00000617732.1:c.*1118C>T	ENSP00000483343.1:n.*1118C>T
ENST00000619289.4:c.2071C>T	ENSP00000484600.1:p.Leu691Phe
NM_001282447.1:c.2431C>T	NP_001269376.1:p.Leu811Phe
NM_025220.3:c.2434C>T	NP_079496.1:p.Leu812Phe
NM_153202.2:c.2356C>T	NP_694882.1:p.Leu786Phe
XM_005260843.1:c.2473C>T	XP_005260900.1:p.Leu825Phe
XM_006723639.1:c.2470C>T	XP_006723702.1:p.Leu824Phe
XM_006723640.1:c.2464C>T	XP_006723703.1:p.Leu822Phe
XM_011529366.1:c.2470C>T	XP_011527668.1:p.Leu824Phe
XM_011529367.1:c.2431C>T	XP_011527669.1:p.Leu811Phe
XM_011529368.1:c.2395C>T	XP_011527670.1:p.Leu799Phe
XM_011529373.1:c.1471C>T	XP_011527675.1:p.Leu491Phe
XR_937152.1:n.2482C>T
XR_937153.1:n.2455C>T
XR_937154.1:n.2455C>T
XR_937155.1:n.2376C>T
XR_937157.1:n.2378C>T
NM_001282447.2:c.2431C>T	NP_001269376.1:p.Leu811Phe
NM_025220.4:c.2434C>T	NP_079496.1:p.Leu812Phe
NM_153202.3:c.2356C>T	NP_694882.1:p.Leu786Phe
XM_011529373.2:c.1471C>T	XP_011527675.1:p.Leu491Phe
XR_001754405.1:n.2542C>T
XR_002958534.1:n.2651C>T
NM_001282447.3:c.2431C>T	NP_001269376.1:p.Leu811Phe
NM_025220.5:c.2434C>T MANE Select	NP_079496.1:p.Leu812Phe
NM_153202.4:c.2356C>T	NP_694882.1:p.Leu786Phe