Canonical Allele Identifier: CA1942335659
Community Standard Title: NM_000274.4(OAT):c.1250C= (p.Pro417=)
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124398012G= , CM000672.2:g.124398012G= GRCh38
NC_000010.10:g.126086581G= , CM000672.1:g.126086581G= GRCh37
NC_000010.9:g.126076571G= NCBI36
NG_008861.1:g.25939C= , LRG_685:g.25939C=

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.1250C= MANE Select NP_000265.1:p.Pro417=
ENST00000368845.6:c.1250C= MANE Select ENSP00000357838.5:p.Pro417=
NM_000274.3:c.1250C= , LRG_685t1:c.1250C= NP_000265.1:p.Pro417=
NM_001171814.1:c.836C= NP_001165285.1:p.Pro279=
NM_001171814.2:c.836C= NP_001165285.1:p.Pro279=
NM_001322965.1:c.1250C= NP_001309894.1:p.Pro417=
NM_001322965.2:c.1250C= NP_001309894.1:p.Pro417=
NM_001322966.1:c.1250C= NP_001309895.1:p.Pro417=
NM_001322966.2:c.1250C= NP_001309895.1:p.Pro417=
NM_001322967.1:c.1250C= NP_001309896.1:p.Pro417=
NM_001322967.2:c.1250C= NP_001309896.1:p.Pro417=
NM_001322968.1:c.1250C= NP_001309897.1:p.Pro417=
NM_001322968.2:c.1250C= NP_001309897.1:p.Pro417=
NM_001322969.1:c.1250C= NP_001309898.1:p.Pro417=
NM_001322969.2:c.1250C= NP_001309898.1:p.Pro417=
NM_001322970.1:c.1250C= NP_001309899.1:p.Pro417=
NM_001322970.2:c.1250C= NP_001309899.1:p.Pro417=
NM_001322971.1:c.929C= NP_001309900.1:p.Pro310=
NM_001322971.2:c.929C= NP_001309900.1:p.Pro310=
NM_001322974.1:c.650C= NP_001309903.1:p.Pro217=
NM_001322974.2:c.650C= NP_001309903.1:p.Pro217=
ENST00000368845.5:c.1250C= ENSP00000357838.5:p.Pro417=
ENST00000539214.5:c.836C= ENSP00000439042.1:p.Pro279=
XM_006717871.2:c.1250C= XP_006717934.1:p.Pro417=
XM_011539833.1:c.1250C= XP_011538135.1:p.Pro417=
XM_011539834.1:c.1250C= XP_011538136.1:p.Pro417=
XM_017016279.1:c.650C= XP_016871768.1:p.Pro217=