Canonical Allele Identifier: CA144164

Gene: OAT

Linked Data

• ClinVar Variation Id: 56130
• ClinVar RCV Id: RCV000049539
• dbSNP Id: rs386833612
• gnomAD v2: 10-126094115-TACCCC-T
• gnomAD v3: 10-124405546-TACCCC-T
• gnomAD v4: 10-124405546-TACCCC-T
• MyVariant Identifiers: chr10:g.126094117_126094121del (hg19) ; chr10:g.126094116_126094120del (hg19) ; chr10:g.124405548_124405552del (hg38) ; chr10:g.124405547_124405551del (hg38)
• PubMed: PMID:22674428

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405548_124405552del , CM000672.2:g.124405548_124405552del	GRCh38
NC_000010.10:g.126094117_126094121del , CM000672.1:g.126094117_126094121del	GRCh37
NC_000010.9:g.126084107_126084111del	NCBI36
NG_008861.1:g.18400_18404del , LRG_685:g.18400_18404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.533_537del MANE Select	ENSP00000357838.5:p.Trp178Ter
ENST00000368845.5:c.533_537del	ENSP00000357838.5:p.Trp178Ter
ENST00000467675.5:n.334_338del
ENST00000483711.1:n.379_383del
ENST00000539214.5:c.119_123del	ENSP00000439042.1:p.Trp40Ter
NM_000274.3:c.533_537del , LRG_685t1:c.533_537del	NP_000265.1:p.Trp178Ter
NM_001171814.1:c.119_123del	NP_001165285.1:p.Trp40Ter
XM_006717871.2:c.533_537del	XP_006717934.1:p.Trp178Ter
XM_011539833.1:c.533_537del	XP_011538135.1:p.Trp178Ter
XM_011539834.1:c.533_537del	XP_011538136.1:p.Trp178Ter
NM_001322965.1:c.533_537del	NP_001309894.1:p.Trp178Ter
NM_001322966.1:c.533_537del	NP_001309895.1:p.Trp178Ter
NM_001322967.1:c.533_537del	NP_001309896.1:p.Trp178Ter
NM_001322968.1:c.533_537del	NP_001309897.1:p.Trp178Ter
NM_001322969.1:c.533_537del	NP_001309898.1:p.Trp178Ter
NM_001322970.1:c.533_537del	NP_001309899.1:p.Trp178Ter
NM_001322971.1:c.212_216del	NP_001309900.1:p.Trp71Ter
NM_001322974.1:c.-68_-64del	NP_001309903.1:n.-68_-64del
XM_017016279.1:c.-68_-64del	XP_016871768.1:n.-68_-64del
NM_000274.4:c.533_537del MANE Select	NP_000265.1:p.Trp178Ter
NM_001322965.2:c.533_537del	NP_001309894.1:p.Trp178Ter
NM_001322966.2:c.533_537del	NP_001309895.1:p.Trp178Ter
NM_001322967.2:c.533_537del	NP_001309896.1:p.Trp178Ter
NM_001322968.2:c.533_537del	NP_001309897.1:p.Trp178Ter
NM_001322969.2:c.533_537del	NP_001309898.1:p.Trp178Ter
NM_001322970.2:c.533_537del	NP_001309899.1:p.Trp178Ter
NM_001322971.2:c.212_216del	NP_001309900.1:p.Trp71Ter
NM_001322974.2:c.-68_-64del	NP_001309903.1:n.-68_-64del
NM_001171814.2:c.119_123del	NP_001165285.1:p.Trp40Ter