Canonical Allele Identifier: CA9745058

Gene: ADAM33

Linked Data

• dbSNP Id: rs768155460
• ExAC: 20:3650225 C / G
• gnomAD v2: 20-3650225-C-G
• gnomAD v4: 20-3669578-C-G
• MyVariant Identifiers: chr20:g.3650225C>G (hg19) ; chr20:g.3669578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3669578C>G , CM000682.2:g.3669578C>G	GRCh38
NC_000020.10:g.3650225C>G , CM000682.1:g.3650225C>G	GRCh37
NC_000020.9:g.3598225C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2300G>C MANE Select	ENSP00000348912.3:p.Gly767Ala
ENST00000350009.6:c.2222G>C	ENSP00000322550.5:p.Gly741Ala
ENST00000356518.6:c.2300G>C	ENSP00000348912.2:p.Gly767Ala
ENST00000379861.8:c.2300G>C	ENSP00000369190.4:p.Gly767Ala
ENST00000466620.5:n.1861G>C
ENST00000483362.1:n.1048G>C
ENST00000617732.1:c.*987G>C	ENSP00000483343.1:n.*987G>C
ENST00000619289.4:c.1940G>C	ENSP00000484600.1:p.Gly647Ala
NM_001282447.1:c.2300G>C	NP_001269376.1:p.Gly767Ala
NM_025220.3:c.2300G>C	NP_079496.1:p.Gly767Ala
NM_153202.2:c.2222G>C	NP_694882.1:p.Gly741Ala
XM_005260843.1:c.2339G>C	XP_005260900.1:p.Gly780Ala
XM_006723639.1:c.2339G>C	XP_006723702.1:p.Gly780Ala
XM_006723640.1:c.2330G>C	XP_006723703.1:p.Gly777Ala
XM_011529366.1:c.2336G>C	XP_011527668.1:p.Gly779Ala
XM_011529367.1:c.2297G>C	XP_011527669.1:p.Gly766Ala
XM_011529368.1:c.2261G>C	XP_011527670.1:p.Gly754Ala
XM_011529373.1:c.1337G>C	XP_011527675.1:p.Gly446Ala
XR_937151.1:n.2384-208G>C
XR_937152.1:n.2384-208G>C
XR_937153.1:n.2324G>C
XR_937154.1:n.2324G>C
XR_937155.1:n.2245G>C
XR_937157.1:n.2247G>C
NM_001282447.2:c.2300G>C	NP_001269376.1:p.Gly767Ala
NM_025220.4:c.2300G>C	NP_079496.1:p.Gly767Ala
NM_153202.3:c.2222G>C	NP_694882.1:p.Gly741Ala
XM_011529373.2:c.1337G>C	XP_011527675.1:p.Gly446Ala
XR_001754405.1:n.2411G>C
XR_002958534.1:n.2520G>C
NM_001282447.3:c.2300G>C	NP_001269376.1:p.Gly767Ala
NM_025220.5:c.2300G>C MANE Select	NP_079496.1:p.Gly767Ala
NM_153202.4:c.2222G>C	NP_694882.1:p.Gly741Ala