Canonical Allele Identifier: CA9745063

Gene: ADAM33

Linked Data

• dbSNP Id: rs149760910
• ExAC: 20:3650237 G / A
• gnomAD v2: 20-3650237-G-A
• gnomAD v3: 20-3669590-G-A
• gnomAD v4: 20-3669590-G-A
• MyVariant Identifiers: chr20:g.3650237G>A (hg19) ; chr20:g.3669590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669590G>A , CM000682.2:g.3669590G>A	GRCh38
NC_000020.10:g.3650237G>A , CM000682.1:g.3650237G>A	GRCh37
NC_000020.9:g.3598237G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2288C>T MANE Select	ENSP00000348912.3:p.Pro763Leu
ENST00000350009.6:c.2210C>T	ENSP00000322550.5:p.Pro737Leu
ENST00000356518.6:c.2288C>T	ENSP00000348912.2:p.Pro763Leu
ENST00000379861.8:c.2288C>T	ENSP00000369190.4:p.Pro763Leu
ENST00000466620.5:n.1849C>T
ENST00000483362.1:n.1036C>T
ENST00000617732.1:c.*975C>T	ENSP00000483343.1:n.*975C>T
ENST00000619289.4:c.1928C>T	ENSP00000484600.1:p.Pro643Leu
NM_001282447.1:c.2288C>T	NP_001269376.1:p.Pro763Leu
NM_025220.3:c.2288C>T	NP_079496.1:p.Pro763Leu
NM_153202.2:c.2210C>T	NP_694882.1:p.Pro737Leu
XM_005260843.1:c.2327C>T	XP_005260900.1:p.Pro776Leu
XM_006723639.1:c.2327C>T	XP_006723702.1:p.Pro776Leu
XM_006723640.1:c.2318C>T	XP_006723703.1:p.Pro773Leu
XM_011529366.1:c.2324C>T	XP_011527668.1:p.Pro775Leu
XM_011529367.1:c.2285C>T	XP_011527669.1:p.Pro762Leu
XM_011529368.1:c.2249C>T	XP_011527670.1:p.Pro750Leu
XM_011529373.1:c.1325C>T	XP_011527675.1:p.Pro442Leu
XR_937151.1:n.2384-220C>T
XR_937152.1:n.2384-220C>T
XR_937153.1:n.2312C>T
XR_937154.1:n.2312C>T
XR_937155.1:n.2233C>T
XR_937157.1:n.2235C>T
NM_001282447.2:c.2288C>T	NP_001269376.1:p.Pro763Leu
NM_025220.4:c.2288C>T	NP_079496.1:p.Pro763Leu
NM_153202.3:c.2210C>T	NP_694882.1:p.Pro737Leu
XM_011529373.2:c.1325C>T	XP_011527675.1:p.Pro442Leu
XR_001754405.1:n.2399C>T
XR_002958534.1:n.2508C>T
NM_001282447.3:c.2288C>T	NP_001269376.1:p.Pro763Leu
NM_025220.5:c.2288C>T MANE Select	NP_079496.1:p.Pro763Leu
NM_153202.4:c.2210C>T	NP_694882.1:p.Pro737Leu