Canonical Allele Identifier: CA509419217
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669366-A-G
MyVariant Identifiers: chr20:g.3650013A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669366A>G , CM000682.2:g.3669366A>G GRCh38
NC_000020.10:g.3650013A>G , CM000682.1:g.3650013A>G GRCh37
NC_000020.9:g.3598013A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2337T>C MANE Select ENSP00000348912.3:p.Pro779=
ENST00000350009.6:c.2259T>C ENSP00000322550.5:p.Pro753=
ENST00000356518.6:c.2337T>C ENSP00000348912.2:p.Pro779=
ENST00000379861.8:c.2337T>C ENSP00000369190.4:p.Pro779=
ENST00000466620.5:n.1898T>C
ENST00000483362.1:n.1260T>C
ENST00000617732.1:c.*1024T>C ENSP00000483343.1:n.*1024T>C
ENST00000619289.4:c.1977T>C ENSP00000484600.1:p.Pro659=
NM_001282447.1:c.2337T>C NP_001269376.1:p.Pro779=
NM_025220.3:c.2337T>C NP_079496.1:p.Pro779=
NM_153202.2:c.2259T>C NP_694882.1:p.Pro753=
XM_005260843.1:c.2376T>C XP_005260900.1:p.Pro792=
XM_006723639.1:c.2376T>C XP_006723702.1:p.Pro792=
XM_006723640.1:c.2367T>C XP_006723703.1:p.Pro789=
XM_011529366.1:c.2373T>C XP_011527668.1:p.Pro791=
XM_011529367.1:c.2334T>C XP_011527669.1:p.Pro778=
XM_011529368.1:c.2298T>C XP_011527670.1:p.Pro766=
XM_011529373.1:c.1374T>C XP_011527675.1:p.Pro458=
XR_937151.1:n.2388T>C
XR_937152.1:n.2388T>C
XR_937153.1:n.2361T>C
XR_937154.1:n.2361T>C
XR_937155.1:n.2282T>C
XR_937157.1:n.2284T>C
NM_001282447.2:c.2337T>C NP_001269376.1:p.Pro779=
NM_025220.4:c.2337T>C NP_079496.1:p.Pro779=
NM_153202.3:c.2259T>C NP_694882.1:p.Pro753=
XM_011529373.2:c.1374T>C XP_011527675.1:p.Pro458=
XR_001754405.1:n.2448T>C
XR_002958534.1:n.2557T>C
NM_001282447.3:c.2337T>C NP_001269376.1:p.Pro779=
NM_025220.5:c.2337T>C MANE Select NP_079496.1:p.Pro779=
NM_153202.4:c.2259T>C NP_694882.1:p.Pro753=