Canonical Allele Identifier: CA509559879
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3652595C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671948C>G , CM000682.2:g.3671948C>G GRCh38
NC_000020.10:g.3652595C>G , CM000682.1:g.3652595C>G GRCh37
NC_000020.9:g.3600595C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1635G>C MANE Select ENSP00000348912.3:p.Val545=
ENST00000350009.6:c.1635G>C ENSP00000322550.5:p.Val545=
ENST00000356518.6:c.1635G>C ENSP00000348912.2:p.Val545=
ENST00000379861.8:c.1635G>C ENSP00000369190.4:p.Val545=
ENST00000466620.5:n.1274G>C
ENST00000617732.1:c.*632-491G>C ENSP00000483343.1:n.*632-491G>C
ENST00000619289.4:c.1275G>C ENSP00000484600.1:p.Val425=
NM_001282447.1:c.1635G>C NP_001269376.1:p.Val545=
NM_025220.3:c.1635G>C NP_079496.1:p.Val545=
NM_153202.2:c.1635G>C NP_694882.1:p.Val545=
XM_005260843.1:c.1674G>C XP_005260900.1:p.Val558=
XM_006723639.1:c.1674G>C XP_006723702.1:p.Val558=
XM_006723640.1:c.1665G>C XP_006723703.1:p.Val555=
XM_011529366.1:c.1671G>C XP_011527668.1:p.Val557=
XM_011529367.1:c.1632G>C XP_011527669.1:p.Val544=
XM_011529368.1:c.1674G>C XP_011527670.1:p.Val558=
XM_011529369.1:c.1642G>C XP_011527671.1:p.Glu548Gln
XM_011529370.1:c.1642G>C XP_011527672.1:p.Glu548Gln
XM_011529373.1:c.672G>C XP_011527675.1:p.Val224=
XR_937151.1:n.1778G>C
XR_937152.1:n.1778G>C
XR_937153.1:n.1659G>C
XR_937154.1:n.1659G>C
XR_937155.1:n.1580G>C
XR_937157.1:n.1582G>C
NM_001282447.2:c.1635G>C NP_001269376.1:p.Val545=
NM_025220.4:c.1635G>C NP_079496.1:p.Val545=
NM_153202.3:c.1635G>C NP_694882.1:p.Val545=
XM_011529373.2:c.672G>C XP_011527675.1:p.Val224=
XR_001754405.1:n.1746G>C
XR_002958534.1:n.1855G>C
NM_001282447.3:c.1635G>C NP_001269376.1:p.Val545=
NM_025220.5:c.1635G>C MANE Select NP_079496.1:p.Val545=
NM_153202.4:c.1635G>C NP_694882.1:p.Val545=