Canonical Allele Identifier: CA378636480
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405506C>A , CM000672.2:g.124405506C>A GRCh38
NC_000010.10:g.126094075C>A , CM000672.1:g.126094075C>A GRCh37
NC_000010.9:g.126084065C>A NCBI36
NG_008861.1:g.18445G>T , LRG_685:g.18445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.578G>T MANE Select ENSP00000357838.5:p.Ser193Ile
ENST00000368845.5:c.578G>T ENSP00000357838.5:p.Ser193Ile
ENST00000467675.5:n.379G>T
ENST00000483711.1:n.424G>T
ENST00000539214.5:c.164G>T ENSP00000439042.1:p.Ser55Ile
NM_000274.3:c.578G>T , LRG_685t1:c.578G>T NP_000265.1:p.Ser193Ile
NM_001171814.1:c.164G>T NP_001165285.1:p.Ser55Ile
XM_006717871.2:c.578G>T XP_006717934.1:p.Ser193Ile
XM_011539833.1:c.578G>T XP_011538135.1:p.Ser193Ile
XM_011539834.1:c.578G>T XP_011538136.1:p.Ser193Ile
NM_001322965.1:c.578G>T NP_001309894.1:p.Ser193Ile
NM_001322966.1:c.578G>T NP_001309895.1:p.Ser193Ile
NM_001322967.1:c.578G>T NP_001309896.1:p.Ser193Ile
NM_001322968.1:c.578G>T NP_001309897.1:p.Ser193Ile
NM_001322969.1:c.578G>T NP_001309898.1:p.Ser193Ile
NM_001322970.1:c.578G>T NP_001309899.1:p.Ser193Ile
NM_001322971.1:c.257G>T NP_001309900.1:p.Ser86Ile
NM_001322974.1:c.-23G>T NP_001309903.1:n.-23G>T
XM_017016279.1:c.-23G>T XP_016871768.1:n.-23G>T
NM_000274.4:c.578G>T MANE Select NP_000265.1:p.Ser193Ile
NM_001322965.2:c.578G>T NP_001309894.1:p.Ser193Ile
NM_001322966.2:c.578G>T NP_001309895.1:p.Ser193Ile
NM_001322967.2:c.578G>T NP_001309896.1:p.Ser193Ile
NM_001322968.2:c.578G>T NP_001309897.1:p.Ser193Ile
NM_001322969.2:c.578G>T NP_001309898.1:p.Ser193Ile
NM_001322970.2:c.578G>T NP_001309899.1:p.Ser193Ile
NM_001322971.2:c.257G>T NP_001309900.1:p.Ser86Ile
NM_001322974.2:c.-23G>T NP_001309903.1:n.-23G>T
NM_001171814.2:c.164G>T NP_001165285.1:p.Ser55Ile