Canonical Allele Identifier: CA378633807
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124400980A>G , CM000672.2:g.124400980A>G GRCh38
NC_000010.10:g.126089549A>G , CM000672.1:g.126089549A>G GRCh37
NC_000010.9:g.126079539A>G NCBI36
NG_008861.1:g.22971T>C , LRG_685:g.22971T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.1019T>C MANE Select ENSP00000357838.5:p.Leu340Ser
ENST00000368845.5:c.1019T>C ENSP00000357838.5:p.Leu340Ser
ENST00000471127.1:n.529T>C
ENST00000539214.5:c.605T>C ENSP00000439042.1:p.Leu202Ser
NM_000274.3:c.1019T>C , LRG_685t1:c.1019T>C NP_000265.1:p.Leu340Ser
NM_001171814.1:c.605T>C NP_001165285.1:p.Leu202Ser
XM_006717871.2:c.1019T>C XP_006717934.1:p.Leu340Ser
XM_011539833.1:c.1019T>C XP_011538135.1:p.Leu340Ser
XM_011539834.1:c.1019T>C XP_011538136.1:p.Leu340Ser
NM_001322965.1:c.1019T>C NP_001309894.1:p.Leu340Ser
NM_001322966.1:c.1019T>C NP_001309895.1:p.Leu340Ser
NM_001322967.1:c.1019T>C NP_001309896.1:p.Leu340Ser
NM_001322968.1:c.1019T>C NP_001309897.1:p.Leu340Ser
NM_001322969.1:c.1019T>C NP_001309898.1:p.Leu340Ser
NM_001322970.1:c.1019T>C NP_001309899.1:p.Leu340Ser
NM_001322971.1:c.698T>C NP_001309900.1:p.Leu233Ser
NM_001322974.1:c.419T>C NP_001309903.1:p.Leu140Ser
XM_017016279.1:c.419T>C XP_016871768.1:p.Leu140Ser
NM_000274.4:c.1019T>C MANE Select NP_000265.1:p.Leu340Ser
NM_001322965.2:c.1019T>C NP_001309894.1:p.Leu340Ser
NM_001322966.2:c.1019T>C NP_001309895.1:p.Leu340Ser
NM_001322967.2:c.1019T>C NP_001309896.1:p.Leu340Ser
NM_001322968.2:c.1019T>C NP_001309897.1:p.Leu340Ser
NM_001322969.2:c.1019T>C NP_001309898.1:p.Leu340Ser
NM_001322970.2:c.1019T>C NP_001309899.1:p.Leu340Ser
NM_001322971.2:c.698T>C NP_001309900.1:p.Leu233Ser
NM_001322974.2:c.419T>C NP_001309903.1:p.Leu140Ser
NM_001171814.2:c.605T>C NP_001165285.1:p.Leu202Ser