Canonical Allele Identifier: CA404119919

Gene: ODAD3

Linked Data

• dbSNP Id: rs1285489308
• gnomAD v2: 19-11533281-T-G
• MyVariant Identifiers: chr19:g.11533281T>G (hg19) ; chr19:g.11422613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422613T>G , CM000681.2:g.11422613T>G	GRCh38
NC_000019.9:g.11533281T>G , CM000681.1:g.11533281T>G	GRCh37
NC_000019.8:g.11394281T>G	NCBI36
NG_041777.1:g.18170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1292A>C MANE Select	ENSP00000348757.3:p.Gln431Pro
ENST00000356392.8:c.1292A>C	ENSP00000348757.3:p.Gln431Pro
ENST00000586836.5:c.719A>C	ENSP00000467429.1:p.Gln240Pro
ENST00000591179.5:c.1112A>C	ENSP00000466800.1:p.Gln371Pro
ENST00000591345.5:c.*1211A>C	ENSP00000467313.1:n.*1211A>C
NM_001302453.1:c.1130A>C	NP_001289382.1:p.Gln377Pro
NM_001302454.1:c.1112A>C	NP_001289383.1:p.Gln371Pro
NM_145045.4:c.1292A>C	NP_659482.3:p.Gln431Pro
NM_145045.5:c.1292A>C MANE Select	NP_659482.3:p.Gln431Pro
NM_001302454.2:c.1112A>C	NP_001289383.1:p.Gln371Pro