Canonical Allele Identifier: CA408104133

Gene: ADAM33

Linked Data

• MyVariant Identifiers: chr20:g.3651752A>G (hg19) ; chr20:g.3671105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671105A>G , CM000682.2:g.3671105A>G	GRCh38
NC_000020.10:g.3651752A>G , CM000682.1:g.3651752A>G	GRCh37
NC_000020.9:g.3599752A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2141T>C MANE Select	ENSP00000348912.3:p.Leu714Pro
ENST00000350009.6:c.2063T>C	ENSP00000322550.5:p.Leu688Pro
ENST00000356518.6:c.2141T>C	ENSP00000348912.2:p.Leu714Pro
ENST00000379861.8:c.2141T>C	ENSP00000369190.4:p.Leu714Pro
ENST00000466620.5:n.1702T>C
ENST00000617732.1:c.*828T>C	ENSP00000483343.1:n.*828T>C
ENST00000619289.4:c.1781T>C	ENSP00000484600.1:p.Leu594Pro
NM_001282447.1:c.2141T>C	NP_001269376.1:p.Leu714Pro
NM_025220.3:c.2141T>C	NP_079496.1:p.Leu714Pro
NM_153202.2:c.2063T>C	NP_694882.1:p.Leu688Pro
XM_005260843.1:c.2180T>C	XP_005260900.1:p.Leu727Pro
XM_006723639.1:c.2180T>C	XP_006723702.1:p.Leu727Pro
XM_006723640.1:c.2171T>C	XP_006723703.1:p.Leu724Pro
XM_011529366.1:c.2177T>C	XP_011527668.1:p.Leu726Pro
XM_011529367.1:c.2138T>C	XP_011527669.1:p.Leu713Pro
XM_011529368.1:c.2102T>C	XP_011527670.1:p.Leu701Pro
XM_011529373.1:c.1178T>C	XP_011527675.1:p.Leu393Pro
XR_937151.1:n.2284T>C
XR_937152.1:n.2284T>C
XR_937153.1:n.2165T>C
XR_937154.1:n.2165T>C
XR_937155.1:n.2086T>C
XR_937157.1:n.2088T>C
NM_001282447.2:c.2141T>C	NP_001269376.1:p.Leu714Pro
NM_025220.4:c.2141T>C	NP_079496.1:p.Leu714Pro
NM_153202.3:c.2063T>C	NP_694882.1:p.Leu688Pro
XM_011529373.2:c.1178T>C	XP_011527675.1:p.Leu393Pro
XR_001754405.1:n.2252T>C
XR_002958534.1:n.2361T>C
NM_001282447.3:c.2141T>C	NP_001269376.1:p.Leu714Pro
NM_025220.5:c.2141T>C MANE Select	NP_079496.1:p.Leu714Pro
NM_153202.4:c.2063T>C	NP_694882.1:p.Leu688Pro