Canonical Allele Identifier: CA404120407

Gene: ODAD3

Linked Data

• dbSNP Id: rs1410520297
• gnomAD v2: 19-11533475-G-T
• gnomAD v4: 19-11422807-G-T
• MyVariant Identifiers: chr19:g.11533475G>T (hg19) ; chr19:g.11422807G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422807G>T , CM000681.2:g.11422807G>T	GRCh38
NC_000019.9:g.11533475G>T , CM000681.1:g.11533475G>T	GRCh37
NC_000019.8:g.11394475G>T	NCBI36
NG_041777.1:g.17976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1171C>A MANE Select	ENSP00000348757.3:p.Leu391Ile
ENST00000356392.8:c.1171C>A	ENSP00000348757.3:p.Leu391Ile
ENST00000586836.5:c.598C>A	ENSP00000467429.1:p.Leu200Ile
ENST00000591179.5:c.991C>A	ENSP00000466800.1:p.Leu331Ile
ENST00000591345.5:c.*1090C>A	ENSP00000467313.1:n.*1090C>A
NM_001302453.1:c.1009C>A	NP_001289382.1:p.Leu337Ile
NM_001302454.1:c.991C>A	NP_001289383.1:p.Leu331Ile
NM_145045.4:c.1171C>A	NP_659482.3:p.Leu391Ile
XM_017026241.1:c.*65C>A	XP_016881730.1:n.*65C>A
NM_145045.5:c.1171C>A MANE Select	NP_659482.3:p.Leu391Ile
NM_001302454.2:c.991C>A	NP_001289383.1:p.Leu331Ile