Canonical Allele Identifier: CA634188203

Gene: ADAM33

Linked Data

• dbSNP Id: rs1425760974
• gnomAD v2: 20-3649819-G-A
• gnomAD v3: 20-3669172-G-A
• gnomAD v4: 20-3669172-G-A
• MyVariant Identifiers: chr20:g.3649819G>A (hg19) ; chr20:g.3669172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669172G>A , CM000682.2:g.3669172G>A	GRCh38
NC_000020.10:g.3649819G>A , CM000682.1:g.3649819G>A	GRCh37
NC_000020.9:g.3597819G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2404+127C>T MANE Select	ENSP00000348912.3:n.2404+127C>T
ENST00000350009.6:c.2326+127C>T	ENSP00000322550.5:n.2326+127C>T
ENST00000356518.6:c.2404+127C>T	ENSP00000348912.2:n.2404+127C>T
ENST00000379861.8:c.2404+127C>T	ENSP00000369190.4:n.2404+127C>T
ENST00000466620.5:n.1965+127C>T
ENST00000483362.1:n.1327+127C>T
ENST00000617732.1:c.*1091+127C>T	ENSP00000483343.1:n.*1091+127C>T
ENST00000619289.4:c.2044+127C>T	ENSP00000484600.1:n.2044+127C>T
NM_001282447.1:c.2404+127C>T	NP_001269376.1:n.2404+127C>T
NM_025220.3:c.2404+127C>T	NP_079496.1:n.2404+127C>T
NM_153202.2:c.2326+127C>T	NP_694882.1:n.2326+127C>T
XM_005260843.1:c.2443+127C>T	XP_005260900.1:n.2443+127C>T
XM_006723639.1:c.2443+127C>T	XP_006723702.1:n.2443+127C>T
XM_006723640.1:c.2434+127C>T	XP_006723703.1:n.2434+127C>T
XM_011529366.1:c.2440+127C>T	XP_011527668.1:n.2440+127C>T
XM_011529367.1:c.2401+127C>T	XP_011527669.1:n.2401+127C>T
XM_011529368.1:c.2365+127C>T	XP_011527670.1:n.2365+127C>T
XM_011529373.1:c.1441+127C>T	XP_011527675.1:n.1441+127C>T
XR_937151.1:n.2455+127C>T
XR_937152.1:n.2455+127C>T
XR_937153.1:n.2428+127C>T
XR_937154.1:n.2428+127C>T
XR_937155.1:n.2349+127C>T
XR_937157.1:n.2351+127C>T
NM_001282447.2:c.2404+127C>T	NP_001269376.1:n.2404+127C>T
NM_025220.4:c.2404+127C>T	NP_079496.1:n.2404+127C>T
NM_153202.3:c.2326+127C>T	NP_694882.1:n.2326+127C>T
XM_011529373.2:c.1441+127C>T	XP_011527675.1:n.1441+127C>T
XR_001754405.1:n.2515+127C>T
XR_002958534.1:n.2624+127C>T
NM_001282447.3:c.2404+127C>T	NP_001269376.1:n.2404+127C>T
NM_025220.5:c.2404+127C>T MANE Select	NP_079496.1:n.2404+127C>T
NM_153202.4:c.2326+127C>T	NP_694882.1:n.2326+127C>T