Canonical Allele Identifier: CA9549015

Gene: ODAD1

Linked Data

• ClinVar Variation Id: 262501
• ClinVar RCV Id: RCV000250979 ; RCV001241549 ; RCV001251019 ; RCV003314585
• dbSNP Id: rs367799104
• ExAC: 19:48809552 C / T
• gnomAD v2: 19-48809552-C-T
• gnomAD v3: 19-48306295-C-T
• gnomAD v4: 19-48306295-C-T
• MyVariant Identifiers: chr19:g.48809552C>T (hg19) ; chr19:g.48306295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48306295C>T , CM000681.2:g.48306295C>T	GRCh38
NC_000019.9:g.48809552C>T , CM000681.1:g.48809552C>T	GRCh37
NC_000019.8:g.53501364C>T	NCBI36
NG_033251.1:g.18781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474199.6:c.626G>A	ENSP00000501357.1:p.Ser209Asn
ENST00000674207.1:c.*334G>A	ENSP00000501374.1:n.*334G>A
ENST00000674294.1:c.626G>A MANE Select	ENSP00000501363.1:p.Ser209Asn
ENST00000315396.7:c.515G>A	ENSP00000318429.7:p.Ser172Asn
ENST00000474199.5:n.643G>A
NM_144577.3:c.515G>A	NP_653178.3:p.Ser172Asn
XM_005259413.2:c.626G>A	XP_005259470.1:p.Ser209Asn
XM_005259414.2:c.626G>A	XP_005259471.1:p.Ser209Asn
XM_005259415.2:c.626G>A	XP_005259472.1:p.Ser209Asn
XM_011527515.1:c.515G>A	XP_011525817.1:p.Ser172Asn
XM_011527516.1:c.515G>A	XP_011525818.1:p.Ser172Asn
XM_011527517.1:c.626G>A	XP_011525819.1:p.Ser209Asn
XM_011527518.1:c.626G>A	XP_011525820.1:p.Ser209Asn
NM_001364171.1:c.626G>A	NP_001351100.1:p.Ser209Asn
NM_144577.4:c.515G>A	NP_653178.3:p.Ser172Asn
XM_005259414.3:c.626G>A	XP_005259471.1:p.Ser209Asn
XM_005259415.3:c.626G>A	XP_005259472.1:p.Ser209Asn
XM_011527515.2:c.515G>A	XP_011525817.1:p.Ser172Asn
XM_011527516.2:c.515G>A	XP_011525818.1:p.Ser172Asn
XM_017027483.1:c.350G>A	XP_016882972.1:p.Ser117Asn
XM_024451782.1:c.665G>A	XP_024307550.1:p.Ser222Asn
XM_024451783.1:c.626G>A	XP_024307551.1:p.Ser209Asn
NM_001364171.2:c.626G>A MANE Select	NP_001351100.1:p.Ser209Asn