Canonical Allele Identifier: CA378637526
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124408935T>A , CM000672.2:g.124408935T>A GRCh38
NC_000010.10:g.126097504T>A , CM000672.1:g.126097504T>A GRCh37
NC_000010.9:g.126087494T>A NCBI36
NG_008861.1:g.15016A>T , LRG_685:g.15016A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.230A>T MANE Select ENSP00000357838.5:p.Lys77Ile
ENST00000368845.5:c.230A>T ENSP00000357838.5:p.Lys77Ile
ENST00000476917.5:n.295A>T
ENST00000490096.5:n.466A>T
ENST00000492376.1:n.578A>T
ENST00000539214.5:c.-185A>T ENSP00000439042.1:n.-185A>T
NM_000274.3:c.230A>T , LRG_685t1:c.230A>T NP_000265.1:p.Lys77Ile
NM_001171814.1:c.-185A>T NP_001165285.1:n.-185A>T
XM_006717871.2:c.230A>T XP_006717934.1:p.Lys77Ile
XM_011539833.1:c.230A>T XP_011538135.1:p.Lys77Ile
XM_011539834.1:c.230A>T XP_011538136.1:p.Lys77Ile
NM_001322965.1:c.230A>T NP_001309894.1:p.Lys77Ile
NM_001322966.1:c.230A>T NP_001309895.1:p.Lys77Ile
NM_001322967.1:c.230A>T NP_001309896.1:p.Lys77Ile
NM_001322968.1:c.230A>T NP_001309897.1:p.Lys77Ile
NM_001322969.1:c.230A>T NP_001309898.1:p.Lys77Ile
NM_001322970.1:c.230A>T NP_001309899.1:p.Lys77Ile
NM_001322971.1:c.199+3038A>T NP_001309900.1:n.199+3038A>T
NM_001322974.1:c.-485A>T NP_001309903.1:n.-485A>T
XM_017016279.1:c.-2224A>T XP_016871768.1:n.-2224A>T
NM_000274.4:c.230A>T MANE Select NP_000265.1:p.Lys77Ile
NM_001322965.2:c.230A>T NP_001309894.1:p.Lys77Ile
NM_001322966.2:c.230A>T NP_001309895.1:p.Lys77Ile
NM_001322967.2:c.230A>T NP_001309896.1:p.Lys77Ile
NM_001322968.2:c.230A>T NP_001309897.1:p.Lys77Ile
NM_001322969.2:c.230A>T NP_001309898.1:p.Lys77Ile
NM_001322970.2:c.230A>T NP_001309899.1:p.Lys77Ile
NM_001322971.2:c.199+3038A>T NP_001309900.1:n.199+3038A>T
NM_001322974.2:c.-485A>T NP_001309903.1:n.-485A>T
NM_001171814.2:c.-185A>T NP_001165285.1:n.-185A>T