Canonical Allele Identifier: CA408105401

Gene: ADAM33

Linked Data

• dbSNP Id: rs1343276329
• gnomAD v2: 20-3652590-G-A
• gnomAD v4: 20-3671943-G-A
• MyVariant Identifiers: chr20:g.3652590G>A (hg19) ; chr20:g.3671943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671943G>A , CM000682.2:g.3671943G>A	GRCh38
NC_000020.10:g.3652590G>A , CM000682.1:g.3652590G>A	GRCh37
NC_000020.9:g.3600590G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1640C>T MANE Select	ENSP00000348912.3:p.Ser547Phe
ENST00000350009.6:c.1640C>T	ENSP00000322550.5:p.Ser547Phe
ENST00000356518.6:c.1640C>T	ENSP00000348912.2:p.Ser547Phe
ENST00000379861.8:c.1640C>T	ENSP00000369190.4:p.Ser547Phe
ENST00000466620.5:n.1279C>T
ENST00000617732.1:c.*632-486C>T	ENSP00000483343.1:n.*632-486C>T
ENST00000619289.4:c.1280C>T	ENSP00000484600.1:p.Ser427Phe
NM_001282447.1:c.1640C>T	NP_001269376.1:p.Ser547Phe
NM_025220.3:c.1640C>T	NP_079496.1:p.Ser547Phe
NM_153202.2:c.1640C>T	NP_694882.1:p.Ser547Phe
XM_005260843.1:c.1679C>T	XP_005260900.1:p.Ser560Phe
XM_006723639.1:c.1679C>T	XP_006723702.1:p.Ser560Phe
XM_006723640.1:c.1670C>T	XP_006723703.1:p.Ser557Phe
XM_011529366.1:c.1676C>T	XP_011527668.1:p.Ser559Phe
XM_011529367.1:c.1637C>T	XP_011527669.1:p.Ser546Phe
XM_011529368.1:c.1679C>T	XP_011527670.1:p.Ser560Phe
XM_011529369.1:c.1647C>T	XP_011527671.1:p.Leu549=
XM_011529370.1:c.1647C>T	XP_011527672.1:p.Leu549=
XM_011529373.1:c.677C>T	XP_011527675.1:p.Ser226Phe
XR_937151.1:n.1783C>T
XR_937152.1:n.1783C>T
XR_937153.1:n.1664C>T
XR_937154.1:n.1664C>T
XR_937155.1:n.1585C>T
XR_937157.1:n.1587C>T
NM_001282447.2:c.1640C>T	NP_001269376.1:p.Ser547Phe
NM_025220.4:c.1640C>T	NP_079496.1:p.Ser547Phe
NM_153202.3:c.1640C>T	NP_694882.1:p.Ser547Phe
XM_011529373.2:c.677C>T	XP_011527675.1:p.Ser226Phe
XR_001754405.1:n.1751C>T
XR_002958534.1:n.1860C>T
NM_001282447.3:c.1640C>T	NP_001269376.1:p.Ser547Phe
NM_025220.5:c.1640C>T MANE Select	NP_079496.1:p.Ser547Phe
NM_153202.4:c.1640C>T	NP_694882.1:p.Ser547Phe