Canonical Allele Identifier: CA9212092

Gene: ODAD3

Linked Data

• dbSNP Id: rs775961256
• ExAC: 19:11533460 C / T
• gnomAD v2: 19-11533460-C-T
• gnomAD v4: 19-11422792-C-T
• MyVariant Identifiers: chr19:g.11533460C>T (hg19) ; chr19:g.11422792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422792C>T , CM000681.2:g.11422792C>T	GRCh38
NC_000019.9:g.11533460C>T , CM000681.1:g.11533460C>T	GRCh37
NC_000019.8:g.11394460C>T	NCBI36
NG_041777.1:g.17991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1186G>A MANE Select	ENSP00000348757.3:p.Glu396Lys
ENST00000356392.8:c.1186G>A	ENSP00000348757.3:p.Glu396Lys
ENST00000586836.5:c.613G>A	ENSP00000467429.1:p.Glu205Lys
ENST00000591179.5:c.1006G>A	ENSP00000466800.1:p.Glu336Lys
ENST00000591345.5:c.*1105G>A	ENSP00000467313.1:n.*1105G>A
NM_001302453.1:c.1024G>A	NP_001289382.1:p.Glu342Lys
NM_001302454.1:c.1006G>A	NP_001289383.1:p.Glu336Lys
NM_145045.4:c.1186G>A	NP_659482.3:p.Glu396Lys
XM_017026241.1:c.*80G>A	XP_016881730.1:n.*80G>A
NM_145045.5:c.1186G>A MANE Select	NP_659482.3:p.Glu396Lys
NM_001302454.2:c.1006G>A	NP_001289383.1:p.Glu336Lys