Canonical Allele Identifier: CA1942338329
Community Standard Title: NM_000274.4(OAT):c.749G= (p.Arg250=)
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124403820C= , CM000672.2:g.124403820C= GRCh38
NC_000010.10:g.126092389C= , CM000672.1:g.126092389C= GRCh37
NC_000010.9:g.126082379C= NCBI36
NG_008861.1:g.20131G= , LRG_685:g.20131G=

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.749G= MANE Select NP_000265.1:p.Arg250=
ENST00000368845.6:c.749G= MANE Select ENSP00000357838.5:p.Arg250=
NM_000274.3:c.749G= , LRG_685t1:c.749G= NP_000265.1:p.Arg250=
NM_001171814.1:c.335G= NP_001165285.1:p.Arg112=
NM_001171814.2:c.335G= NP_001165285.1:p.Arg112=
NM_001322965.1:c.749G= NP_001309894.1:p.Arg250=
NM_001322965.2:c.749G= NP_001309894.1:p.Arg250=
NM_001322966.1:c.749G= NP_001309895.1:p.Arg250=
NM_001322966.2:c.749G= NP_001309895.1:p.Arg250=
NM_001322967.1:c.749G= NP_001309896.1:p.Arg250=
NM_001322967.2:c.749G= NP_001309896.1:p.Arg250=
NM_001322968.1:c.749G= NP_001309897.1:p.Arg250=
NM_001322968.2:c.749G= NP_001309897.1:p.Arg250=
NM_001322969.1:c.749G= NP_001309898.1:p.Arg250=
NM_001322969.2:c.749G= NP_001309898.1:p.Arg250=
NM_001322970.1:c.749G= NP_001309899.1:p.Arg250=
NM_001322970.2:c.749G= NP_001309899.1:p.Arg250=
NM_001322971.1:c.428G= NP_001309900.1:p.Arg143=
NM_001322971.2:c.428G= NP_001309900.1:p.Arg143=
NM_001322974.1:c.149G= NP_001309903.1:p.Arg50=
NM_001322974.2:c.149G= NP_001309903.1:p.Arg50=
ENST00000368845.5:c.749G= ENSP00000357838.5:p.Arg250=
ENST00000467675.5:n.550G=
ENST00000539214.5:c.335G= ENSP00000439042.1:p.Arg112=
XM_006717871.2:c.749G= XP_006717934.1:p.Arg250=
XM_011539833.1:c.749G= XP_011538135.1:p.Arg250=
XM_011539834.1:c.749G= XP_011538136.1:p.Arg250=
XM_017016279.1:c.149G= XP_016871768.1:p.Arg50=