Canonical Allele Identifier: CA408105114

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671715-C-G
• MyVariant Identifiers: chr20:g.3652362C>G (hg19) ; chr20:g.3671715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671715C>G , CM000682.2:g.3671715C>G	GRCh38
NC_000020.10:g.3652362C>G , CM000682.1:g.3652362C>G	GRCh37
NC_000020.9:g.3600362C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1771G>C MANE Select	ENSP00000348912.3:p.Val591Leu
ENST00000350009.6:c.1771G>C	ENSP00000322550.5:p.Val591Leu
ENST00000356518.6:c.1771G>C	ENSP00000348912.2:p.Val591Leu
ENST00000379861.8:c.1771G>C	ENSP00000369190.4:p.Val591Leu
ENST00000466620.5:n.1410G>C
ENST00000617732.1:c.*632-258G>C	ENSP00000483343.1:n.*632-258G>C
ENST00000619289.4:c.1411G>C	ENSP00000484600.1:p.Val471Leu
NM_001282447.1:c.1771G>C	NP_001269376.1:p.Val591Leu
NM_025220.3:c.1771G>C	NP_079496.1:p.Val591Leu
NM_153202.2:c.1771G>C	NP_694882.1:p.Val591Leu
XM_005260843.1:c.1810G>C	XP_005260900.1:p.Val604Leu
XM_006723639.1:c.1810G>C	XP_006723702.1:p.Val604Leu
XM_006723640.1:c.1801G>C	XP_006723703.1:p.Val601Leu
XM_011529366.1:c.1807G>C	XP_011527668.1:p.Val603Leu
XM_011529367.1:c.1768G>C	XP_011527669.1:p.Val590Leu
XM_011529368.1:c.1810G>C	XP_011527670.1:p.Val604Leu
XM_011529369.1:c.1778G>C	XP_011527671.1:p.Gly593Ala
XM_011529370.1:c.1778G>C	XP_011527672.1:p.Gly593Ala
XM_011529373.1:c.808G>C	XP_011527675.1:p.Val270Leu
XR_937151.1:n.1914G>C
XR_937152.1:n.1914G>C
XR_937153.1:n.1795G>C
XR_937154.1:n.1795G>C
XR_937155.1:n.1716G>C
XR_937157.1:n.1718G>C
NM_001282447.2:c.1771G>C	NP_001269376.1:p.Val591Leu
NM_025220.4:c.1771G>C	NP_079496.1:p.Val591Leu
NM_153202.3:c.1771G>C	NP_694882.1:p.Val591Leu
XM_011529373.2:c.808G>C	XP_011527675.1:p.Val270Leu
XR_001754405.1:n.1882G>C
XR_002958534.1:n.1991G>C
NM_001282447.3:c.1771G>C	NP_001269376.1:p.Val591Leu
NM_025220.5:c.1771G>C MANE Select	NP_079496.1:p.Val591Leu
NM_153202.4:c.1771G>C	NP_694882.1:p.Val591Leu