Canonical Allele Identifier: CA408105101

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671708-A-G
• MyVariant Identifiers: chr20:g.3652355A>G (hg19) ; chr20:g.3671708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671708A>G , CM000682.2:g.3671708A>G	GRCh38
NC_000020.10:g.3652355A>G , CM000682.1:g.3652355A>G	GRCh37
NC_000020.9:g.3600355A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1778T>C MANE Select	ENSP00000348912.3:p.Val593Ala
ENST00000350009.6:c.1778T>C	ENSP00000322550.5:p.Val593Ala
ENST00000356518.6:c.1778T>C	ENSP00000348912.2:p.Val593Ala
ENST00000379861.8:c.1778T>C	ENSP00000369190.4:p.Val593Ala
ENST00000466620.5:n.1417T>C
ENST00000617732.1:c.*632-251T>C	ENSP00000483343.1:n.*632-251T>C
ENST00000619289.4:c.1418T>C	ENSP00000484600.1:p.Val473Ala
NM_001282447.1:c.1778T>C	NP_001269376.1:p.Val593Ala
NM_025220.3:c.1778T>C	NP_079496.1:p.Val593Ala
NM_153202.2:c.1778T>C	NP_694882.1:p.Val593Ala
XM_005260843.1:c.1817T>C	XP_005260900.1:p.Val606Ala
XM_006723639.1:c.1817T>C	XP_006723702.1:p.Val606Ala
XM_006723640.1:c.1808T>C	XP_006723703.1:p.Val603Ala
XM_011529366.1:c.1814T>C	XP_011527668.1:p.Val605Ala
XM_011529367.1:c.1775T>C	XP_011527669.1:p.Val592Ala
XM_011529368.1:c.1817T>C	XP_011527670.1:p.Val606Ala
XM_011529369.1:c.1785T>C	XP_011527671.1:p.Ser595=
XM_011529370.1:c.1785T>C	XP_011527672.1:p.Ser595=
XM_011529373.1:c.815T>C	XP_011527675.1:p.Val272Ala
XR_937151.1:n.1921T>C
XR_937152.1:n.1921T>C
XR_937153.1:n.1802T>C
XR_937154.1:n.1802T>C
XR_937155.1:n.1723T>C
XR_937157.1:n.1725T>C
NM_001282447.2:c.1778T>C	NP_001269376.1:p.Val593Ala
NM_025220.4:c.1778T>C	NP_079496.1:p.Val593Ala
NM_153202.3:c.1778T>C	NP_694882.1:p.Val593Ala
XM_011529373.2:c.815T>C	XP_011527675.1:p.Val272Ala
XR_001754405.1:n.1889T>C
XR_002958534.1:n.1998T>C
NM_001282447.3:c.1778T>C	NP_001269376.1:p.Val593Ala
NM_025220.5:c.1778T>C MANE Select	NP_079496.1:p.Val593Ala
NM_153202.4:c.1778T>C	NP_694882.1:p.Val593Ala