Canonical Allele Identifier: CA408103902

Gene: ADAM33

Linked Data

• dbSNP Id: rs1276789495
• gnomAD v2: 20-3650279-T-G
• gnomAD v4: 20-3669632-T-G
• MyVariant Identifiers: chr20:g.3650279T>G (hg19) ; chr20:g.3669632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669632T>G , CM000682.2:g.3669632T>G	GRCh38
NC_000020.10:g.3650279T>G , CM000682.1:g.3650279T>G	GRCh37
NC_000020.9:g.3598279T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2246A>C MANE Select	ENSP00000348912.3:p.Lys749Thr
ENST00000350009.6:c.2168A>C	ENSP00000322550.5:p.Lys723Thr
ENST00000356518.6:c.2246A>C	ENSP00000348912.2:p.Lys749Thr
ENST00000379861.8:c.2246A>C	ENSP00000369190.4:p.Lys749Thr
ENST00000466620.5:n.1807A>C
ENST00000483362.1:n.994A>C
ENST00000617732.1:c.*933A>C	ENSP00000483343.1:n.*933A>C
ENST00000619289.4:c.1886A>C	ENSP00000484600.1:p.Lys629Thr
NM_001282447.1:c.2246A>C	NP_001269376.1:p.Lys749Thr
NM_025220.3:c.2246A>C	NP_079496.1:p.Lys749Thr
NM_153202.2:c.2168A>C	NP_694882.1:p.Lys723Thr
XM_005260843.1:c.2285A>C	XP_005260900.1:p.Lys762Thr
XM_006723639.1:c.2285A>C	XP_006723702.1:p.Lys762Thr
XM_006723640.1:c.2276A>C	XP_006723703.1:p.Lys759Thr
XM_011529366.1:c.2282A>C	XP_011527668.1:p.Lys761Thr
XM_011529367.1:c.2243A>C	XP_011527669.1:p.Lys748Thr
XM_011529368.1:c.2207A>C	XP_011527670.1:p.Lys736Thr
XM_011529373.1:c.1283A>C	XP_011527675.1:p.Lys428Thr
XR_937151.1:n.2384-262A>C
XR_937152.1:n.2384-262A>C
XR_937153.1:n.2270A>C
XR_937154.1:n.2270A>C
XR_937155.1:n.2191A>C
XR_937157.1:n.2193A>C
NM_001282447.2:c.2246A>C	NP_001269376.1:p.Lys749Thr
NM_025220.4:c.2246A>C	NP_079496.1:p.Lys749Thr
NM_153202.3:c.2168A>C	NP_694882.1:p.Lys723Thr
XM_011529373.2:c.1283A>C	XP_011527675.1:p.Lys428Thr
XR_001754405.1:n.2357A>C
XR_002958534.1:n.2466A>C
NM_001282447.3:c.2246A>C	NP_001269376.1:p.Lys749Thr
NM_025220.5:c.2246A>C MANE Select	NP_079496.1:p.Lys749Thr
NM_153202.4:c.2168A>C	NP_694882.1:p.Lys723Thr