Canonical Allele Identifier: CA378636725
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405552A>G , CM000672.2:g.124405552A>G GRCh38
NC_000010.10:g.126094121A>G , CM000672.1:g.126094121A>G GRCh37
NC_000010.9:g.126084111A>G NCBI36
NG_008861.1:g.18399T>C , LRG_685:g.18399T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.532T>C MANE Select ENSP00000357838.5:p.Trp178Arg
ENST00000368845.5:c.532T>C ENSP00000357838.5:p.Trp178Arg
ENST00000467675.5:n.333T>C
ENST00000483711.1:n.378T>C
ENST00000539214.5:c.118T>C ENSP00000439042.1:p.Trp40Arg
NM_000274.3:c.532T>C , LRG_685t1:c.532T>C NP_000265.1:p.Trp178Arg
NM_001171814.1:c.118T>C NP_001165285.1:p.Trp40Arg
XM_006717871.2:c.532T>C XP_006717934.1:p.Trp178Arg
XM_011539833.1:c.532T>C XP_011538135.1:p.Trp178Arg
XM_011539834.1:c.532T>C XP_011538136.1:p.Trp178Arg
NM_001322965.1:c.532T>C NP_001309894.1:p.Trp178Arg
NM_001322966.1:c.532T>C NP_001309895.1:p.Trp178Arg
NM_001322967.1:c.532T>C NP_001309896.1:p.Trp178Arg
NM_001322968.1:c.532T>C NP_001309897.1:p.Trp178Arg
NM_001322969.1:c.532T>C NP_001309898.1:p.Trp178Arg
NM_001322970.1:c.532T>C NP_001309899.1:p.Trp178Arg
NM_001322971.1:c.211T>C NP_001309900.1:p.Trp71Arg
NM_001322974.1:c.-69T>C NP_001309903.1:n.-69T>C
XM_017016279.1:c.-69T>C XP_016871768.1:n.-69T>C
NM_000274.4:c.532T>C MANE Select NP_000265.1:p.Trp178Arg
NM_001322965.2:c.532T>C NP_001309894.1:p.Trp178Arg
NM_001322966.2:c.532T>C NP_001309895.1:p.Trp178Arg
NM_001322967.2:c.532T>C NP_001309896.1:p.Trp178Arg
NM_001322968.2:c.532T>C NP_001309897.1:p.Trp178Arg
NM_001322969.2:c.532T>C NP_001309898.1:p.Trp178Arg
NM_001322970.2:c.532T>C NP_001309899.1:p.Trp178Arg
NM_001322971.2:c.211T>C NP_001309900.1:p.Trp71Arg
NM_001322974.2:c.-69T>C NP_001309903.1:n.-69T>C
NM_001171814.2:c.118T>C NP_001165285.1:p.Trp40Arg