Canonical Allele Identifier: CA9212210

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 2202071
• ClinVar RCV Id: RCV002647803
• dbSNP Id: rs769419628
• ExAC: 19:11537003 G / A
• gnomAD v2: 19-11537003-G-A
• gnomAD v3: 19-11426183-G-A
• gnomAD v4: 19-11426183-G-A
• MyVariant Identifiers: chr19:g.11537003G>A (hg19) ; chr19:g.11426183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11426183G>A , CM000681.2:g.11426183G>A	GRCh38
NC_000019.9:g.11537003G>A , CM000681.1:g.11537003G>A	GRCh37
NC_000019.8:g.11398003G>A	NCBI36
NG_041777.1:g.14600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356392.9:c.924C>T MANE Select	ENSP00000348757.3:p.Ala308=
ENST00000356392.8:c.924C>T	ENSP00000348757.3:p.Ala308=
ENST00000586836.5:c.351C>T	ENSP00000467429.1:p.Ala117=
ENST00000591179.5:c.744C>T	ENSP00000466800.1:p.Ala248=
ENST00000591345.5:c.*843C>T	ENSP00000467313.1:n.*843C>T
NM_001302453.1:c.762C>T	NP_001289382.1:p.Ala254=
NM_001302454.1:c.744C>T	NP_001289383.1:p.Ala248=
NM_145045.4:c.924C>T	NP_659482.3:p.Ala308=
XM_017026241.1:c.904+20C>T	XP_016881730.1:n.904+20C>T
NM_145045.5:c.924C>T MANE Select	NP_659482.3:p.Ala308=
NM_001302454.2:c.744C>T	NP_001289383.1:p.Ala248=