Canonical Allele Identifier: CA509419159

Gene: ADAM33

Linked Data

• dbSNP Id: rs1294200711
• gnomAD v2: 20-3649611-C-T
• gnomAD v3: 20-3668964-C-T
• gnomAD v4: 20-3668964-C-T
• MyVariant Identifiers: chr20:g.3649611C>T (hg19) ; chr20:g.3668964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668964C>T , CM000682.2:g.3668964C>T	GRCh38
NC_000020.10:g.3649611C>T , CM000682.1:g.3649611C>T	GRCh37
NC_000020.9:g.3597611C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2441G>A MANE Select	ENSP00000348912.3:p.Ter814=
ENST00000350009.6:c.2363G>A	ENSP00000322550.5:p.Ter788=
ENST00000356518.6:c.2441G>A	ENSP00000348912.2:p.Ter814=
ENST00000379861.8:c.2438G>A	ENSP00000369190.4:p.Ter813=
ENST00000466620.5:n.2002G>A
ENST00000483362.1:n.1364G>A
ENST00000617732.1:c.*1125G>A	ENSP00000483343.1:n.*1125G>A
ENST00000619289.4:c.2078G>A	ENSP00000484600.1:p.Ter693=
NM_001282447.1:c.2438G>A	NP_001269376.1:p.Ter813=
NM_025220.3:c.2441G>A	NP_079496.1:p.Ter814=
NM_153202.2:c.2363G>A	NP_694882.1:p.Ter788=
XM_005260843.1:c.2480G>A	XP_005260900.1:p.Ter827=
XM_006723639.1:c.2477G>A	XP_006723702.1:p.Ter826=
XM_006723640.1:c.2471G>A	XP_006723703.1:p.Ter824=
XM_011529366.1:c.2477G>A	XP_011527668.1:p.Ter826=
XM_011529367.1:c.2438G>A	XP_011527669.1:p.Ter813=
XM_011529368.1:c.2402G>A	XP_011527670.1:p.Ter801=
XM_011529373.1:c.1478G>A	XP_011527675.1:p.Ter493=
XR_937153.1:n.2462G>A
XR_937154.1:n.2462G>A
XR_937155.1:n.2383G>A
XR_937157.1:n.2385G>A
NM_001282447.2:c.2438G>A	NP_001269376.1:p.Ter813=
NM_025220.4:c.2441G>A	NP_079496.1:p.Ter814=
NM_153202.3:c.2363G>A	NP_694882.1:p.Ter788=
XM_011529373.2:c.1478G>A	XP_011527675.1:p.Ter493=
XR_001754405.1:n.2549G>A
XR_002958534.1:n.2658G>A
NM_001282447.3:c.2438G>A	NP_001269376.1:p.Ter813=
NM_025220.5:c.2441G>A MANE Select	NP_079496.1:p.Ter814=
NM_153202.4:c.2363G>A	NP_694882.1:p.Ter788=