Canonical Allele Identifier: CA408103790

Gene: ADAM33

Linked Data

• dbSNP Id: rs1600195874
• MyVariant Identifiers: chr20:g.3650228A>C (hg19) ; chr20:g.3669581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669581A>C , CM000682.2:g.3669581A>C	GRCh38
NC_000020.10:g.3650228A>C , CM000682.1:g.3650228A>C	GRCh37
NC_000020.9:g.3598228A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2297T>G MANE Select	ENSP00000348912.3:p.Leu766Trp
ENST00000350009.6:c.2219T>G	ENSP00000322550.5:p.Leu740Trp
ENST00000356518.6:c.2297T>G	ENSP00000348912.2:p.Leu766Trp
ENST00000379861.8:c.2297T>G	ENSP00000369190.4:p.Leu766Trp
ENST00000466620.5:n.1858T>G
ENST00000483362.1:n.1045T>G
ENST00000617732.1:c.*984T>G	ENSP00000483343.1:n.*984T>G
ENST00000619289.4:c.1937T>G	ENSP00000484600.1:p.Leu646Trp
NM_001282447.1:c.2297T>G	NP_001269376.1:p.Leu766Trp
NM_025220.3:c.2297T>G	NP_079496.1:p.Leu766Trp
NM_153202.2:c.2219T>G	NP_694882.1:p.Leu740Trp
XM_005260843.1:c.2336T>G	XP_005260900.1:p.Leu779Trp
XM_006723639.1:c.2336T>G	XP_006723702.1:p.Leu779Trp
XM_006723640.1:c.2327T>G	XP_006723703.1:p.Leu776Trp
XM_011529366.1:c.2333T>G	XP_011527668.1:p.Leu778Trp
XM_011529367.1:c.2294T>G	XP_011527669.1:p.Leu765Trp
XM_011529368.1:c.2258T>G	XP_011527670.1:p.Leu753Trp
XM_011529373.1:c.1334T>G	XP_011527675.1:p.Leu445Trp
XR_937151.1:n.2384-211T>G
XR_937152.1:n.2384-211T>G
XR_937153.1:n.2321T>G
XR_937154.1:n.2321T>G
XR_937155.1:n.2242T>G
XR_937157.1:n.2244T>G
NM_001282447.2:c.2297T>G	NP_001269376.1:p.Leu766Trp
NM_025220.4:c.2297T>G	NP_079496.1:p.Leu766Trp
NM_153202.3:c.2219T>G	NP_694882.1:p.Leu740Trp
XM_011529373.2:c.1334T>G	XP_011527675.1:p.Leu445Trp
XR_001754405.1:n.2408T>G
XR_002958534.1:n.2517T>G
NM_001282447.3:c.2297T>G	NP_001269376.1:p.Leu766Trp
NM_025220.5:c.2297T>G MANE Select	NP_079496.1:p.Leu766Trp
NM_153202.4:c.2219T>G	NP_694882.1:p.Leu740Trp