Canonical Allele Identifier: CA378633046
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124397988A>G , CM000672.2:g.124397988A>G GRCh38
NC_000010.10:g.126086557A>G , CM000672.1:g.126086557A>G GRCh37
NC_000010.9:g.126076547A>G NCBI36
NG_008861.1:g.25963T>C , LRG_685:g.25963T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.1274T>C MANE Select ENSP00000357838.5:p.Leu425Pro
ENST00000368845.5:c.1274T>C ENSP00000357838.5:p.Leu425Pro
ENST00000539214.5:c.860T>C ENSP00000439042.1:p.Leu287Pro
NM_000274.3:c.1274T>C , LRG_685t1:c.1274T>C NP_000265.1:p.Leu425Pro
NM_001171814.1:c.860T>C NP_001165285.1:p.Leu287Pro
XM_006717871.2:c.1274T>C XP_006717934.1:p.Leu425Pro
XM_011539833.1:c.1274T>C XP_011538135.1:p.Leu425Pro
XM_011539834.1:c.1274T>C XP_011538136.1:p.Leu425Pro
NM_001322965.1:c.1274T>C NP_001309894.1:p.Leu425Pro
NM_001322966.1:c.1274T>C NP_001309895.1:p.Leu425Pro
NM_001322967.1:c.1274T>C NP_001309896.1:p.Leu425Pro
NM_001322968.1:c.1274T>C NP_001309897.1:p.Leu425Pro
NM_001322969.1:c.1274T>C NP_001309898.1:p.Leu425Pro
NM_001322970.1:c.1274T>C NP_001309899.1:p.Leu425Pro
NM_001322971.1:c.953T>C NP_001309900.1:p.Leu318Pro
NM_001322974.1:c.674T>C NP_001309903.1:p.Leu225Pro
XM_017016279.1:c.674T>C XP_016871768.1:p.Leu225Pro
NM_000274.4:c.1274T>C MANE Select NP_000265.1:p.Leu425Pro
NM_001322965.2:c.1274T>C NP_001309894.1:p.Leu425Pro
NM_001322966.2:c.1274T>C NP_001309895.1:p.Leu425Pro
NM_001322967.2:c.1274T>C NP_001309896.1:p.Leu425Pro
NM_001322968.2:c.1274T>C NP_001309897.1:p.Leu425Pro
NM_001322969.2:c.1274T>C NP_001309898.1:p.Leu425Pro
NM_001322970.2:c.1274T>C NP_001309899.1:p.Leu425Pro
NM_001322971.2:c.953T>C NP_001309900.1:p.Leu318Pro
NM_001322974.2:c.674T>C NP_001309903.1:p.Leu225Pro
NM_001171814.2:c.860T>C NP_001165285.1:p.Leu287Pro