Canonical Allele Identifier: CA9212060

Gene: ODAD3

Linked Data

• dbSNP Id: rs752759872
• ExAC: 19:11533246 G / A
• gnomAD v2: 19-11533246-G-A
• gnomAD v3: 19-11422578-G-A
• gnomAD v4: 19-11422578-G-A
• MyVariant Identifiers: chr19:g.11533246G>A (hg19) ; chr19:g.11422578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422578G>A , CM000681.2:g.11422578G>A	GRCh38
NC_000019.9:g.11533246G>A , CM000681.1:g.11533246G>A	GRCh37
NC_000019.8:g.11394246G>A	NCBI36
NG_041777.1:g.18205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1327C>T MANE Select	ENSP00000348757.3:p.Arg443Trp
ENST00000356392.8:c.1327C>T	ENSP00000348757.3:p.Arg443Trp
ENST00000586836.5:c.754C>T	ENSP00000467429.1:p.Arg252Trp
ENST00000591179.5:c.1147C>T	ENSP00000466800.1:p.Arg383Trp
ENST00000591345.5:c.*1246C>T	ENSP00000467313.1:n.*1246C>T
NM_001302453.1:c.1165C>T	NP_001289382.1:p.Arg389Trp
NM_001302454.1:c.1147C>T	NP_001289383.1:p.Arg383Trp
NM_145045.4:c.1327C>T	NP_659482.3:p.Arg443Trp
NM_145045.5:c.1327C>T MANE Select	NP_659482.3:p.Arg443Trp
NM_001302454.2:c.1147C>T	NP_001289383.1:p.Arg383Trp