Canonical Allele Identifier: CA404120027

Gene: ODAD3

Linked Data

• gnomAD v4: 19-11422705-C-G
• MyVariant Identifiers: chr19:g.11533373C>G (hg19) ; chr19:g.11422705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422705C>G , CM000681.2:g.11422705C>G	GRCh38
NC_000019.9:g.11533373C>G , CM000681.1:g.11533373C>G	GRCh37
NC_000019.8:g.11394373C>G	NCBI36
NG_041777.1:g.18078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1273G>C MANE Select	ENSP00000348757.3:p.Val425Leu
ENST00000356392.8:c.1273G>C	ENSP00000348757.3:p.Val425Leu
ENST00000586836.5:c.700G>C	ENSP00000467429.1:p.Val234Leu
ENST00000591179.5:c.1093G>C	ENSP00000466800.1:p.Val365Leu
ENST00000591345.5:c.*1192G>C	ENSP00000467313.1:n.*1192G>C
NM_001302453.1:c.1111G>C	NP_001289382.1:p.Val371Leu
NM_001302454.1:c.1093G>C	NP_001289383.1:p.Val365Leu
NM_145045.4:c.1273G>C	NP_659482.3:p.Val425Leu
NM_145045.5:c.1273G>C MANE Select	NP_659482.3:p.Val425Leu
NM_001302454.2:c.1093G>C	NP_001289383.1:p.Val365Leu