Canonical Allele Identifier: CA9745242

Gene: ADAM33

Linked Data

• dbSNP Id: rs754867141
• ExAC: 20:3652316 C / G
• gnomAD v2: 20-3652316-C-G
• gnomAD v4: 20-3671669-C-G
• MyVariant Identifiers: chr20:g.3652316C>G (hg19) ; chr20:g.3671669C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671669C>G , CM000682.2:g.3671669C>G	GRCh38
NC_000020.10:g.3652316C>G , CM000682.1:g.3652316C>G	GRCh37
NC_000020.9:g.3600316C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1817G>C MANE Select	ENSP00000348912.3:p.Cys606Ser
ENST00000350009.6:c.1817G>C	ENSP00000322550.5:p.Cys606Ser
ENST00000356518.6:c.1817G>C	ENSP00000348912.2:p.Cys606Ser
ENST00000379861.8:c.1817G>C	ENSP00000369190.4:p.Cys606Ser
ENST00000466620.5:n.1456G>C
ENST00000617732.1:c.*632-212G>C	ENSP00000483343.1:n.*632-212G>C
ENST00000619289.4:c.1457G>C	ENSP00000484600.1:p.Cys486Ser
NM_001282447.1:c.1817G>C	NP_001269376.1:p.Cys606Ser
NM_025220.3:c.1817G>C	NP_079496.1:p.Cys606Ser
NM_153202.2:c.1817G>C	NP_694882.1:p.Cys606Ser
XM_005260843.1:c.1856G>C	XP_005260900.1:p.Cys619Ser
XM_006723639.1:c.1856G>C	XP_006723702.1:p.Cys619Ser
XM_006723640.1:c.1847G>C	XP_006723703.1:p.Cys616Ser
XM_011529366.1:c.1853G>C	XP_011527668.1:p.Cys618Ser
XM_011529367.1:c.1814G>C	XP_011527669.1:p.Cys605Ser
XM_011529368.1:c.1856G>C	XP_011527670.1:p.Cys619Ser
XM_011529369.1:c.1824G>C	XP_011527671.1:p.Leu608Phe
XM_011529370.1:c.1824G>C	XP_011527672.1:p.Leu608Phe
XM_011529373.1:c.854G>C	XP_011527675.1:p.Cys285Ser
XR_937151.1:n.1960G>C
XR_937152.1:n.1960G>C
XR_937153.1:n.1841G>C
XR_937154.1:n.1841G>C
XR_937155.1:n.1762G>C
XR_937157.1:n.1764G>C
NM_001282447.2:c.1817G>C	NP_001269376.1:p.Cys606Ser
NM_025220.4:c.1817G>C	NP_079496.1:p.Cys606Ser
NM_153202.3:c.1817G>C	NP_694882.1:p.Cys606Ser
XM_011529373.2:c.854G>C	XP_011527675.1:p.Cys285Ser
XR_001754405.1:n.1928G>C
XR_002958534.1:n.2037G>C
NM_001282447.3:c.1817G>C	NP_001269376.1:p.Cys606Ser
NM_025220.5:c.1817G>C MANE Select	NP_079496.1:p.Cys606Ser
NM_153202.4:c.1817G>C	NP_694882.1:p.Cys606Ser