Canonical Allele Identifier: CA14803891
Gene: ADAM33 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.3668514C>G
GRCh37 chr20:g.3649161C>G
gnomAD v2:
20:3649161 C / G
gnomAD v3:
20:3668514 C / G
gnomAD v4:
chr20-3668514-C-G
Joint Max Group AF 0.77681223 (AMR)
Genomes Max Group AF 0.76947189 (NFE)
Exomes Max Group AF 0.80738782 (AMR)
dbSNP:
2787094
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3668514C>G , CM000682.2:g.3668514C>G GRCh38
NC_000020.10:g.3649161C>G , CM000682.1:g.3649161C>G GRCh37
NC_000020.9:g.3597161C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.*449G>C MANE Select ENSP00000348912.3:n.*449G>C
ENST00000350009.6:c.*449G>C ENSP00000322550.5:n.*449G>C
ENST00000356518.6:c.*449G>C ENSP00000348912.2:n.*449G>C
ENST00000379861.8:c.*449G>C ENSP00000369190.4:n.*449G>C
ENST00000466620.5:n.2452G>C
ENST00000483362.1:n.1814G>C
ENST00000619289.4:c.*449G>C ENSP00000484600.1:n.*449G>C
NM_001282447.1:c.*449G>C NP_001269376.1:n.*449G>C
NM_025220.3:c.*449G>C NP_079496.1:n.*449G>C
NM_153202.2:c.*449G>C NP_694882.1:n.*449G>C
XM_005260843.1:c.*449G>C XP_005260900.1:n.*449G>C
XM_006723639.1:c.*449G>C XP_006723702.1:n.*449G>C
XM_006723640.1:c.*449G>C XP_006723703.1:n.*449G>C
XM_011529366.1:c.*449G>C XP_011527668.1:n.*449G>C
XM_011529367.1:c.*449G>C XP_011527669.1:n.*449G>C
XM_011529368.1:c.*449G>C XP_011527670.1:n.*449G>C
XM_011529373.1:c.*449G>C XP_011527675.1:n.*449G>C
XR_937153.1:n.2912G>C
XR_937154.1:n.2912G>C
XR_937155.1:n.2833G>C
XR_937157.1:n.2835G>C
NM_001282447.2:c.*449G>C NP_001269376.1:n.*449G>C
NM_025220.4:c.*449G>C NP_079496.1:n.*449G>C
NM_153202.3:c.*449G>C NP_694882.1:n.*449G>C
XM_011529373.2:c.*449G>C XP_011527675.1:n.*449G>C
XR_001754405.1:n.2999G>C
XR_002958534.1:n.3108G>C
NM_001282447.3:c.*449G>C NP_001269376.1:n.*449G>C
NM_025220.5:c.*449G>C MANE Select NP_079496.1:n.*449G>C
NM_153202.4:c.*449G>C NP_694882.1:n.*449G>C
Search 100 bp 5'
Search 100 bp 3'