Canonical Allele Identifier: CA408103774
Gene: ADAM33 HGNC NCBI

Linked Data

gnomAD v4: 20-3669572-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669572G>T , CM000682.2:g.3669572G>T GRCh38
NC_000020.10:g.3650219G>T , CM000682.1:g.3650219G>T GRCh37
NC_000020.9:g.3598219G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2306C>A MANE Select ENSP00000348912.3:p.Thr769Lys
ENST00000350009.6:c.2228C>A ENSP00000322550.5:p.Thr743Lys
ENST00000356518.6:c.2306C>A ENSP00000348912.2:p.Thr769Lys
ENST00000379861.8:c.2306C>A ENSP00000369190.4:p.Thr769Lys
ENST00000466620.5:n.1867C>A
ENST00000483362.1:n.1054C>A
ENST00000617732.1:c.*993C>A ENSP00000483343.1:n.*993C>A
ENST00000619289.4:c.1946C>A ENSP00000484600.1:p.Thr649Lys
NM_001282447.1:c.2306C>A NP_001269376.1:p.Thr769Lys
NM_025220.3:c.2306C>A NP_079496.1:p.Thr769Lys
NM_153202.2:c.2228C>A NP_694882.1:p.Thr743Lys
XM_005260843.1:c.2345C>A XP_005260900.1:p.Thr782Lys
XM_006723639.1:c.2345C>A XP_006723702.1:p.Thr782Lys
XM_006723640.1:c.2336C>A XP_006723703.1:p.Thr779Lys
XM_011529366.1:c.2342C>A XP_011527668.1:p.Thr781Lys
XM_011529367.1:c.2303C>A XP_011527669.1:p.Thr768Lys
XM_011529368.1:c.2267C>A XP_011527670.1:p.Thr756Lys
XM_011529373.1:c.1343C>A XP_011527675.1:p.Thr448Lys
XR_937151.1:n.2384-202C>A
XR_937152.1:n.2384-202C>A
XR_937153.1:n.2330C>A
XR_937154.1:n.2330C>A
XR_937155.1:n.2251C>A
XR_937157.1:n.2253C>A
NM_001282447.2:c.2306C>A NP_001269376.1:p.Thr769Lys
NM_025220.4:c.2306C>A NP_079496.1:p.Thr769Lys
NM_153202.3:c.2228C>A NP_694882.1:p.Thr743Lys
XM_011529373.2:c.1343C>A XP_011527675.1:p.Thr448Lys
XR_001754405.1:n.2417C>A
XR_002958534.1:n.2526C>A
NM_001282447.3:c.2306C>A NP_001269376.1:p.Thr769Lys
NM_025220.5:c.2306C>A MANE Select NP_079496.1:p.Thr769Lys
NM_153202.4:c.2228C>A NP_694882.1:p.Thr743Lys