Canonical Allele Identifier: CA311000288

Gene: ADAM33

Linked Data

• dbSNP Id: rs993799055
• gnomAD v3: 20-3671890-G-A
• gnomAD v4: 20-3671890-G-A
• COSMIC: COSM4470976
• MyVariant Identifiers: chr20:g.3652537G>A (hg19) ; chr20:g.3671890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671890G>A , CM000682.2:g.3671890G>A	GRCh38
NC_000020.10:g.3652537G>A , CM000682.1:g.3652537G>A	GRCh37
NC_000020.9:g.3600537G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1693C>T MANE Select	ENSP00000348912.3:p.Pro565Ser
ENST00000350009.6:c.1693C>T	ENSP00000322550.5:p.Pro565Ser
ENST00000356518.6:c.1693C>T	ENSP00000348912.2:p.Pro565Ser
ENST00000379861.8:c.1693C>T	ENSP00000369190.4:p.Pro565Ser
ENST00000466620.5:n.1332C>T
ENST00000617732.1:c.*632-433C>T	ENSP00000483343.1:n.*632-433C>T
ENST00000619289.4:c.1333C>T	ENSP00000484600.1:p.Pro445Ser
NM_001282447.1:c.1693C>T	NP_001269376.1:p.Pro565Ser
NM_025220.3:c.1693C>T	NP_079496.1:p.Pro565Ser
NM_153202.2:c.1693C>T	NP_694882.1:p.Pro565Ser
XM_005260843.1:c.1732C>T	XP_005260900.1:p.Pro578Ser
XM_006723639.1:c.1732C>T	XP_006723702.1:p.Pro578Ser
XM_006723640.1:c.1723C>T	XP_006723703.1:p.Pro575Ser
XM_011529366.1:c.1729C>T	XP_011527668.1:p.Pro577Ser
XM_011529367.1:c.1690C>T	XP_011527669.1:p.Pro564Ser
XM_011529368.1:c.1732C>T	XP_011527670.1:p.Pro578Ser
XM_011529369.1:c.1700C>T	XP_011527671.1:p.Ala567Val
XM_011529370.1:c.1700C>T	XP_011527672.1:p.Ala567Val
XM_011529373.1:c.730C>T	XP_011527675.1:p.Pro244Ser
XR_937151.1:n.1836C>T
XR_937152.1:n.1836C>T
XR_937153.1:n.1717C>T
XR_937154.1:n.1717C>T
XR_937155.1:n.1638C>T
XR_937157.1:n.1640C>T
NM_001282447.2:c.1693C>T	NP_001269376.1:p.Pro565Ser
NM_025220.4:c.1693C>T	NP_079496.1:p.Pro565Ser
NM_153202.3:c.1693C>T	NP_694882.1:p.Pro565Ser
XM_011529373.2:c.730C>T	XP_011527675.1:p.Pro244Ser
XR_001754405.1:n.1804C>T
XR_002958534.1:n.1913C>T
NM_001282447.3:c.1693C>T	NP_001269376.1:p.Pro565Ser
NM_025220.5:c.1693C>T MANE Select	NP_079496.1:p.Pro565Ser
NM_153202.4:c.1693C>T	NP_694882.1:p.Pro565Ser