Canonical Allele Identifier: CA509419275
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3650278T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669631T>C , CM000682.2:g.3669631T>C GRCh38
NC_000020.10:g.3650278T>C , CM000682.1:g.3650278T>C GRCh37
NC_000020.9:g.3598278T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2247A>G MANE Select ENSP00000348912.3:p.Lys749=
ENST00000350009.6:c.2169A>G ENSP00000322550.5:p.Lys723=
ENST00000356518.6:c.2247A>G ENSP00000348912.2:p.Lys749=
ENST00000379861.8:c.2247A>G ENSP00000369190.4:p.Lys749=
ENST00000466620.5:n.1808A>G
ENST00000483362.1:n.995A>G
ENST00000617732.1:c.*934A>G ENSP00000483343.1:n.*934A>G
ENST00000619289.4:c.1887A>G ENSP00000484600.1:p.Lys629=
NM_001282447.1:c.2247A>G NP_001269376.1:p.Lys749=
NM_025220.3:c.2247A>G NP_079496.1:p.Lys749=
NM_153202.2:c.2169A>G NP_694882.1:p.Lys723=
XM_005260843.1:c.2286A>G XP_005260900.1:p.Lys762=
XM_006723639.1:c.2286A>G XP_006723702.1:p.Lys762=
XM_006723640.1:c.2277A>G XP_006723703.1:p.Lys759=
XM_011529366.1:c.2283A>G XP_011527668.1:p.Lys761=
XM_011529367.1:c.2244A>G XP_011527669.1:p.Lys748=
XM_011529368.1:c.2208A>G XP_011527670.1:p.Lys736=
XM_011529373.1:c.1284A>G XP_011527675.1:p.Lys428=
XR_937151.1:n.2384-261A>G
XR_937152.1:n.2384-261A>G
XR_937153.1:n.2271A>G
XR_937154.1:n.2271A>G
XR_937155.1:n.2192A>G
XR_937157.1:n.2194A>G
NM_001282447.2:c.2247A>G NP_001269376.1:p.Lys749=
NM_025220.4:c.2247A>G NP_079496.1:p.Lys749=
NM_153202.3:c.2169A>G NP_694882.1:p.Lys723=
XM_011529373.2:c.1284A>G XP_011527675.1:p.Lys428=
XR_001754405.1:n.2358A>G
XR_002958534.1:n.2467A>G
NM_001282447.3:c.2247A>G NP_001269376.1:p.Lys749=
NM_025220.5:c.2247A>G MANE Select NP_079496.1:p.Lys749=
NM_153202.4:c.2169A>G NP_694882.1:p.Lys723=