Canonical Allele Identifier: CA408103717

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3650193C>G (hg19) ; chr20:g.3669546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669546C>G , CM000682.2:g.3669546C>G	GRCh38
NC_000020.10:g.3650193C>G , CM000682.1:g.3650193C>G	GRCh37
NC_000020.9:g.3598193C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2332G>C MANE Select	ENSP00000348912.3:p.Asp778His
ENST00000350009.6:c.2254G>C	ENSP00000322550.5:p.Asp752His
ENST00000356518.6:c.2332G>C	ENSP00000348912.2:p.Asp778His
ENST00000379861.8:c.2332G>C	ENSP00000369190.4:p.Asp778His
ENST00000466620.5:n.1893G>C
ENST00000483362.1:n.1080G>C
ENST00000617732.1:c.*1019G>C	ENSP00000483343.1:n.*1019G>C
ENST00000619289.4:c.1972G>C	ENSP00000484600.1:p.Asp658His
NM_001282447.1:c.2332G>C	NP_001269376.1:p.Asp778His
NM_025220.3:c.2332G>C	NP_079496.1:p.Asp778His
NM_153202.2:c.2254G>C	NP_694882.1:p.Asp752His
XM_005260843.1:c.2371G>C	XP_005260900.1:p.Asp791His
XM_006723639.1:c.2371G>C	XP_006723702.1:p.Asp791His
XM_006723640.1:c.2362G>C	XP_006723703.1:p.Asp788His
XM_011529366.1:c.2368G>C	XP_011527668.1:p.Asp790His
XM_011529367.1:c.2329G>C	XP_011527669.1:p.Asp777His
XM_011529368.1:c.2293G>C	XP_011527670.1:p.Asp765His
XM_011529373.1:c.1369G>C	XP_011527675.1:p.Asp457His
XR_937151.1:n.2384-176G>C
XR_937152.1:n.2384-176G>C
XR_937153.1:n.2356G>C
XR_937154.1:n.2356G>C
XR_937155.1:n.2277G>C
XR_937157.1:n.2279G>C
NM_001282447.2:c.2332G>C	NP_001269376.1:p.Asp778His
NM_025220.4:c.2332G>C	NP_079496.1:p.Asp778His
NM_153202.3:c.2254G>C	NP_694882.1:p.Asp752His
XM_011529373.2:c.1369G>C	XP_011527675.1:p.Asp457His
XR_001754405.1:n.2443G>C
XR_002958534.1:n.2552G>C
NM_001282447.3:c.2332G>C	NP_001269376.1:p.Asp778His
NM_025220.5:c.2332G>C MANE Select	NP_079496.1:p.Asp778His
NM_153202.4:c.2254G>C	NP_694882.1:p.Asp752His