Canonical Allele Identifier: CA408105077

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652343A>G (hg19) ; chr20:g.3671696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671696A>G , CM000682.2:g.3671696A>G	GRCh38
NC_000020.10:g.3652343A>G , CM000682.1:g.3652343A>G	GRCh37
NC_000020.9:g.3600343A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1790T>C MANE Select	ENSP00000348912.3:p.Val597Ala
ENST00000350009.6:c.1790T>C	ENSP00000322550.5:p.Val597Ala
ENST00000356518.6:c.1790T>C	ENSP00000348912.2:p.Val597Ala
ENST00000379861.8:c.1790T>C	ENSP00000369190.4:p.Val597Ala
ENST00000466620.5:n.1429T>C
ENST00000617732.1:c.*632-239T>C	ENSP00000483343.1:n.*632-239T>C
ENST00000619289.4:c.1430T>C	ENSP00000484600.1:p.Val477Ala
NM_001282447.1:c.1790T>C	NP_001269376.1:p.Val597Ala
NM_025220.3:c.1790T>C	NP_079496.1:p.Val597Ala
NM_153202.2:c.1790T>C	NP_694882.1:p.Val597Ala
XM_005260843.1:c.1829T>C	XP_005260900.1:p.Val610Ala
XM_006723639.1:c.1829T>C	XP_006723702.1:p.Val610Ala
XM_006723640.1:c.1820T>C	XP_006723703.1:p.Val607Ala
XM_011529366.1:c.1826T>C	XP_011527668.1:p.Val609Ala
XM_011529367.1:c.1787T>C	XP_011527669.1:p.Val596Ala
XM_011529368.1:c.1829T>C	XP_011527670.1:p.Val610Ala
XM_011529369.1:c.1797T>C	XP_011527671.1:p.Arg599=
XM_011529370.1:c.1797T>C	XP_011527672.1:p.Arg599=
XM_011529373.1:c.827T>C	XP_011527675.1:p.Val276Ala
XR_937151.1:n.1933T>C
XR_937152.1:n.1933T>C
XR_937153.1:n.1814T>C
XR_937154.1:n.1814T>C
XR_937155.1:n.1735T>C
XR_937157.1:n.1737T>C
NM_001282447.2:c.1790T>C	NP_001269376.1:p.Val597Ala
NM_025220.4:c.1790T>C	NP_079496.1:p.Val597Ala
NM_153202.3:c.1790T>C	NP_694882.1:p.Val597Ala
XM_011529373.2:c.827T>C	XP_011527675.1:p.Val276Ala
XR_001754405.1:n.1901T>C
XR_002958534.1:n.2010T>C
NM_001282447.3:c.1790T>C	NP_001269376.1:p.Val597Ala
NM_025220.5:c.1790T>C MANE Select	NP_079496.1:p.Val597Ala
NM_153202.4:c.1790T>C	NP_694882.1:p.Val597Ala