Canonical Allele Identifier: CA509419248
Gene: ADAM33 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.3650236G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669589G>A , CM000682.2:g.3669589G>A GRCh38
NC_000020.10:g.3650236G>A , CM000682.1:g.3650236G>A GRCh37
NC_000020.9:g.3598236G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356518.7:c.2289C>T MANE Select ENSP00000348912.3:p.Pro763=
ENST00000350009.6:c.2211C>T ENSP00000322550.5:p.Pro737=
ENST00000356518.6:c.2289C>T ENSP00000348912.2:p.Pro763=
ENST00000379861.8:c.2289C>T ENSP00000369190.4:p.Pro763=
ENST00000466620.5:n.1850C>T
ENST00000483362.1:n.1037C>T
ENST00000617732.1:c.*976C>T ENSP00000483343.1:n.*976C>T
ENST00000619289.4:c.1929C>T ENSP00000484600.1:p.Pro643=
NM_001282447.1:c.2289C>T NP_001269376.1:p.Pro763=
NM_025220.3:c.2289C>T NP_079496.1:p.Pro763=
NM_153202.2:c.2211C>T NP_694882.1:p.Pro737=
XM_005260843.1:c.2328C>T XP_005260900.1:p.Pro776=
XM_006723639.1:c.2328C>T XP_006723702.1:p.Pro776=
XM_006723640.1:c.2319C>T XP_006723703.1:p.Pro773=
XM_011529366.1:c.2325C>T XP_011527668.1:p.Pro775=
XM_011529367.1:c.2286C>T XP_011527669.1:p.Pro762=
XM_011529368.1:c.2250C>T XP_011527670.1:p.Pro750=
XM_011529373.1:c.1326C>T XP_011527675.1:p.Pro442=
XR_937151.1:n.2384-219C>T
XR_937152.1:n.2384-219C>T
XR_937153.1:n.2313C>T
XR_937154.1:n.2313C>T
XR_937155.1:n.2234C>T
XR_937157.1:n.2236C>T
NM_001282447.2:c.2289C>T NP_001269376.1:p.Pro763=
NM_025220.4:c.2289C>T NP_079496.1:p.Pro763=
NM_153202.3:c.2211C>T NP_694882.1:p.Pro737=
XM_011529373.2:c.1326C>T XP_011527675.1:p.Pro442=
XR_001754405.1:n.2400C>T
XR_002958534.1:n.2509C>T
NM_001282447.3:c.2289C>T NP_001269376.1:p.Pro763=
NM_025220.5:c.2289C>T MANE Select NP_079496.1:p.Pro763=
NM_153202.4:c.2211C>T NP_694882.1:p.Pro737=