Canonical Allele Identifier: CA404120549

Gene: ODAD3

Linked Data

• dbSNP Id: rs757344292
• gnomAD v2: 19-11533511-G-C
• gnomAD v4: 19-11422843-G-C
• MyVariant Identifiers: chr19:g.11533511G>C (hg19) ; chr19:g.11422843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422843G>C , CM000681.2:g.11422843G>C	GRCh38
NC_000019.9:g.11533511G>C , CM000681.1:g.11533511G>C	GRCh37
NC_000019.8:g.11394511G>C	NCBI36
NG_041777.1:g.17940C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1135C>G MANE Select	ENSP00000348757.3:p.Leu379Val
ENST00000356392.8:c.1135C>G	ENSP00000348757.3:p.Leu379Val
ENST00000586836.5:c.562C>G	ENSP00000467429.1:p.Leu188Val
ENST00000591179.5:c.955C>G	ENSP00000466800.1:p.Leu319Val
ENST00000591345.5:c.*1054C>G	ENSP00000467313.1:n.*1054C>G
NM_001302453.1:c.973C>G	NP_001289382.1:p.Leu325Val
NM_001302454.1:c.955C>G	NP_001289383.1:p.Leu319Val
NM_145045.4:c.1135C>G	NP_659482.3:p.Leu379Val
XM_017026241.1:c.*29C>G	XP_016881730.1:n.*29C>G
NM_145045.5:c.1135C>G MANE Select	NP_659482.3:p.Leu379Val
NM_001302454.2:c.955C>G	NP_001289383.1:p.Leu319Val