Canonical Allele Identifier: CA408105087

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3652349G>A (hg19) ; chr20:g.3671702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671702G>A , CM000682.2:g.3671702G>A	GRCh38
NC_000020.10:g.3652349G>A , CM000682.1:g.3652349G>A	GRCh37
NC_000020.9:g.3600349G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1784C>T MANE Select	ENSP00000348912.3:p.Ser595Phe
ENST00000350009.6:c.1784C>T	ENSP00000322550.5:p.Ser595Phe
ENST00000356518.6:c.1784C>T	ENSP00000348912.2:p.Ser595Phe
ENST00000379861.8:c.1784C>T	ENSP00000369190.4:p.Ser595Phe
ENST00000466620.5:n.1423C>T
ENST00000617732.1:c.*632-245C>T	ENSP00000483343.1:n.*632-245C>T
ENST00000619289.4:c.1424C>T	ENSP00000484600.1:p.Ser475Phe
NM_001282447.1:c.1784C>T	NP_001269376.1:p.Ser595Phe
NM_025220.3:c.1784C>T	NP_079496.1:p.Ser595Phe
NM_153202.2:c.1784C>T	NP_694882.1:p.Ser595Phe
XM_005260843.1:c.1823C>T	XP_005260900.1:p.Ser608Phe
XM_006723639.1:c.1823C>T	XP_006723702.1:p.Ser608Phe
XM_006723640.1:c.1814C>T	XP_006723703.1:p.Ser605Phe
XM_011529366.1:c.1820C>T	XP_011527668.1:p.Ser607Phe
XM_011529367.1:c.1781C>T	XP_011527669.1:p.Ser594Phe
XM_011529368.1:c.1823C>T	XP_011527670.1:p.Ser608Phe
XM_011529369.1:c.1791C>T	XP_011527671.1:p.Leu597=
XM_011529370.1:c.1791C>T	XP_011527672.1:p.Leu597=
XM_011529373.1:c.821C>T	XP_011527675.1:p.Ser274Phe
XR_937151.1:n.1927C>T
XR_937152.1:n.1927C>T
XR_937153.1:n.1808C>T
XR_937154.1:n.1808C>T
XR_937155.1:n.1729C>T
XR_937157.1:n.1731C>T
NM_001282447.2:c.1784C>T	NP_001269376.1:p.Ser595Phe
NM_025220.4:c.1784C>T	NP_079496.1:p.Ser595Phe
NM_153202.3:c.1784C>T	NP_694882.1:p.Ser595Phe
XM_011529373.2:c.821C>T	XP_011527675.1:p.Ser274Phe
XR_001754405.1:n.1895C>T
XR_002958534.1:n.2004C>T
NM_001282447.3:c.1784C>T	NP_001269376.1:p.Ser595Phe
NM_025220.5:c.1784C>T MANE Select	NP_079496.1:p.Ser595Phe
NM_153202.4:c.1784C>T	NP_694882.1:p.Ser595Phe