Canonical Allele Identifier: CA408104119

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671099-G-A
• COSMIC: COSM6240471
• MyVariant Identifiers: chr20:g.3651746G>A (hg19) ; chr20:g.3671099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671099G>A , CM000682.2:g.3671099G>A	GRCh38
NC_000020.10:g.3651746G>A , CM000682.1:g.3651746G>A	GRCh37
NC_000020.9:g.3599746G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2147C>T MANE Select	ENSP00000348912.3:p.Pro716Leu
ENST00000350009.6:c.2069C>T	ENSP00000322550.5:p.Pro690Leu
ENST00000356518.6:c.2147C>T	ENSP00000348912.2:p.Pro716Leu
ENST00000379861.8:c.2147C>T	ENSP00000369190.4:p.Pro716Leu
ENST00000466620.5:n.1708C>T
ENST00000617732.1:c.*834C>T	ENSP00000483343.1:n.*834C>T
ENST00000619289.4:c.1787C>T	ENSP00000484600.1:p.Pro596Leu
NM_001282447.1:c.2147C>T	NP_001269376.1:p.Pro716Leu
NM_025220.3:c.2147C>T	NP_079496.1:p.Pro716Leu
NM_153202.2:c.2069C>T	NP_694882.1:p.Pro690Leu
XM_005260843.1:c.2186C>T	XP_005260900.1:p.Pro729Leu
XM_006723639.1:c.2186C>T	XP_006723702.1:p.Pro729Leu
XM_006723640.1:c.2177C>T	XP_006723703.1:p.Pro726Leu
XM_011529366.1:c.2183C>T	XP_011527668.1:p.Pro728Leu
XM_011529367.1:c.2144C>T	XP_011527669.1:p.Pro715Leu
XM_011529368.1:c.2108C>T	XP_011527670.1:p.Pro703Leu
XM_011529373.1:c.1184C>T	XP_011527675.1:p.Pro395Leu
XR_937151.1:n.2290C>T
XR_937152.1:n.2290C>T
XR_937153.1:n.2171C>T
XR_937154.1:n.2171C>T
XR_937155.1:n.2092C>T
XR_937157.1:n.2094C>T
NM_001282447.2:c.2147C>T	NP_001269376.1:p.Pro716Leu
NM_025220.4:c.2147C>T	NP_079496.1:p.Pro716Leu
NM_153202.3:c.2069C>T	NP_694882.1:p.Pro690Leu
XM_011529373.2:c.1184C>T	XP_011527675.1:p.Pro395Leu
XR_001754405.1:n.2258C>T
XR_002958534.1:n.2367C>T
NM_001282447.3:c.2147C>T	NP_001269376.1:p.Pro716Leu
NM_025220.5:c.2147C>T MANE Select	NP_079496.1:p.Pro716Leu
NM_153202.4:c.2069C>T	NP_694882.1:p.Pro690Leu