Canonical Allele Identifier: CA408105416

Gene: ADAM33

Linked Data

• gnomAD v4: 20-3671949-A-G
• MyVariant Identifiers: chr20:g.3652596A>G (hg19) ; chr20:g.3671949A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671949A>G , CM000682.2:g.3671949A>G	GRCh38
NC_000020.10:g.3652596A>G , CM000682.1:g.3652596A>G	GRCh37
NC_000020.9:g.3600596A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1634T>C MANE Select	ENSP00000348912.3:p.Val545Ala
ENST00000350009.6:c.1634T>C	ENSP00000322550.5:p.Val545Ala
ENST00000356518.6:c.1634T>C	ENSP00000348912.2:p.Val545Ala
ENST00000379861.8:c.1634T>C	ENSP00000369190.4:p.Val545Ala
ENST00000466620.5:n.1273T>C
ENST00000617732.1:c.*632-492T>C	ENSP00000483343.1:n.*632-492T>C
ENST00000619289.4:c.1274T>C	ENSP00000484600.1:p.Val425Ala
NM_001282447.1:c.1634T>C	NP_001269376.1:p.Val545Ala
NM_025220.3:c.1634T>C	NP_079496.1:p.Val545Ala
NM_153202.2:c.1634T>C	NP_694882.1:p.Val545Ala
XM_005260843.1:c.1673T>C	XP_005260900.1:p.Val558Ala
XM_006723639.1:c.1673T>C	XP_006723702.1:p.Val558Ala
XM_006723640.1:c.1664T>C	XP_006723703.1:p.Val555Ala
XM_011529366.1:c.1670T>C	XP_011527668.1:p.Val557Ala
XM_011529367.1:c.1631T>C	XP_011527669.1:p.Val544Ala
XM_011529368.1:c.1673T>C	XP_011527670.1:p.Val558Ala
XM_011529369.1:c.1641T>C	XP_011527671.1:p.Gly547=
XM_011529370.1:c.1641T>C	XP_011527672.1:p.Gly547=
XM_011529373.1:c.671T>C	XP_011527675.1:p.Val224Ala
XR_937151.1:n.1777T>C
XR_937152.1:n.1777T>C
XR_937153.1:n.1658T>C
XR_937154.1:n.1658T>C
XR_937155.1:n.1579T>C
XR_937157.1:n.1581T>C
NM_001282447.2:c.1634T>C	NP_001269376.1:p.Val545Ala
NM_025220.4:c.1634T>C	NP_079496.1:p.Val545Ala
NM_153202.3:c.1634T>C	NP_694882.1:p.Val545Ala
XM_011529373.2:c.671T>C	XP_011527675.1:p.Val224Ala
XR_001754405.1:n.1745T>C
XR_002958534.1:n.1854T>C
NM_001282447.3:c.1634T>C	NP_001269376.1:p.Val545Ala
NM_025220.5:c.1634T>C MANE Select	NP_079496.1:p.Val545Ala
NM_153202.4:c.1634T>C	NP_694882.1:p.Val545Ala