Canonical Allele Identifier: CA509419251

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3669592-G-A
• MyVariant Identifiers: chr20:g.3650239G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669592G>A , CM000682.2:g.3669592G>A	GRCh38
NC_000020.10:g.3650239G>A , CM000682.1:g.3650239G>A	GRCh37
NC_000020.9:g.3598239G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2286C>T MANE Select	ENSP00000348912.3:p.His762=
ENST00000350009.6:c.2208C>T	ENSP00000322550.5:p.His736=
ENST00000356518.6:c.2286C>T	ENSP00000348912.2:p.His762=
ENST00000379861.8:c.2286C>T	ENSP00000369190.4:p.His762=
ENST00000466620.5:n.1847C>T
ENST00000483362.1:n.1034C>T
ENST00000617732.1:c.*973C>T	ENSP00000483343.1:n.*973C>T
ENST00000619289.4:c.1926C>T	ENSP00000484600.1:p.His642=
NM_001282447.1:c.2286C>T	NP_001269376.1:p.His762=
NM_025220.3:c.2286C>T	NP_079496.1:p.His762=
NM_153202.2:c.2208C>T	NP_694882.1:p.His736=
XM_005260843.1:c.2325C>T	XP_005260900.1:p.His775=
XM_006723639.1:c.2325C>T	XP_006723702.1:p.His775=
XM_006723640.1:c.2316C>T	XP_006723703.1:p.His772=
XM_011529366.1:c.2322C>T	XP_011527668.1:p.His774=
XM_011529367.1:c.2283C>T	XP_011527669.1:p.His761=
XM_011529368.1:c.2247C>T	XP_011527670.1:p.His749=
XM_011529373.1:c.1323C>T	XP_011527675.1:p.His441=
XR_937151.1:n.2384-222C>T
XR_937152.1:n.2384-222C>T
XR_937153.1:n.2310C>T
XR_937154.1:n.2310C>T
XR_937155.1:n.2231C>T
XR_937157.1:n.2233C>T
NM_001282447.2:c.2286C>T	NP_001269376.1:p.His762=
NM_025220.4:c.2286C>T	NP_079496.1:p.His762=
NM_153202.3:c.2208C>T	NP_694882.1:p.His736=
XM_011529373.2:c.1323C>T	XP_011527675.1:p.His441=
XR_001754405.1:n.2397C>T
XR_002958534.1:n.2506C>T
NM_001282447.3:c.2286C>T	NP_001269376.1:p.His762=
NM_025220.5:c.2286C>T MANE Select	NP_079496.1:p.His762=
NM_153202.4:c.2208C>T	NP_694882.1:p.His736=