Canonical Allele Identifier: CA114010
Gene: OAT HGNC NCBI

Linked Data

ClinVar Variation Id: 180
ClinVar RCV Id: RCV000000203
dbSNP Id: rs267606924

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124403003C>T , CM000672.2:g.124403003C>T GRCh38
NC_000010.10:g.126091572C>T , CM000672.1:g.126091572C>T GRCh37
NC_000010.9:g.126081562C>T NCBI36
NG_008861.1:g.20948G>A , LRG_685:g.20948G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.824G>A MANE Select ENSP00000357838.5:p.Trp275Ter
ENST00000368845.5:c.824G>A ENSP00000357838.5:p.Trp275Ter
ENST00000467675.5:n.625G>A
ENST00000471127.1:n.334G>A
ENST00000539214.5:c.410G>A ENSP00000439042.1:p.Trp137Ter
NM_000274.3:c.824G>A , LRG_685t1:c.824G>A NP_000265.1:p.Trp275Ter
NM_001171814.1:c.410G>A NP_001165285.1:p.Trp137Ter
XM_006717871.2:c.824G>A XP_006717934.1:p.Trp275Ter
XM_011539833.1:c.824G>A XP_011538135.1:p.Trp275Ter
XM_011539834.1:c.824G>A XP_011538136.1:p.Trp275Ter
NM_001322965.1:c.824G>A NP_001309894.1:p.Trp275Ter
NM_001322966.1:c.824G>A NP_001309895.1:p.Trp275Ter
NM_001322967.1:c.824G>A NP_001309896.1:p.Trp275Ter
NM_001322968.1:c.824G>A NP_001309897.1:p.Trp275Ter
NM_001322969.1:c.824G>A NP_001309898.1:p.Trp275Ter
NM_001322970.1:c.824G>A NP_001309899.1:p.Trp275Ter
NM_001322971.1:c.503G>A NP_001309900.1:p.Trp168Ter
NM_001322974.1:c.224G>A NP_001309903.1:p.Trp75Ter
XM_017016279.1:c.224G>A XP_016871768.1:p.Trp75Ter
NM_000274.4:c.824G>A MANE Select NP_000265.1:p.Trp275Ter
NM_001322965.2:c.824G>A NP_001309894.1:p.Trp275Ter
NM_001322966.2:c.824G>A NP_001309895.1:p.Trp275Ter
NM_001322967.2:c.824G>A NP_001309896.1:p.Trp275Ter
NM_001322968.2:c.824G>A NP_001309897.1:p.Trp275Ter
NM_001322969.2:c.824G>A NP_001309898.1:p.Trp275Ter
NM_001322970.2:c.824G>A NP_001309899.1:p.Trp275Ter
NM_001322971.2:c.503G>A NP_001309900.1:p.Trp168Ter
NM_001322974.2:c.224G>A NP_001309903.1:p.Trp75Ter
NM_001171814.2:c.410G>A NP_001165285.1:p.Trp137Ter