Canonical Allele Identifier: CA378635591
Community Standard Title: NM_000274.4(OAT):c.796C>T (p.Gln266Ter)
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124403031G>A , CM000672.2:g.124403031G>A GRCh38
NC_000010.10:g.126091600G>A , CM000672.1:g.126091600G>A GRCh37
NC_000010.9:g.126081590G>A NCBI36
NG_008861.1:g.20920C>T , LRG_685:g.20920C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.796C>T MANE Select NP_000265.1:p.Gln266Ter
ENST00000368845.6:c.796C>T MANE Select ENSP00000357838.5:p.Gln266Ter
NM_000274.3:c.796C>T , LRG_685t1:c.796C>T NP_000265.1:p.Gln266Ter
NM_001171814.1:c.382C>T NP_001165285.1:p.Gln128Ter
NM_001171814.2:c.382C>T NP_001165285.1:p.Gln128Ter
NM_001322965.1:c.796C>T NP_001309894.1:p.Gln266Ter
NM_001322965.2:c.796C>T NP_001309894.1:p.Gln266Ter
NM_001322966.1:c.796C>T NP_001309895.1:p.Gln266Ter
NM_001322966.2:c.796C>T NP_001309895.1:p.Gln266Ter
NM_001322967.1:c.796C>T NP_001309896.1:p.Gln266Ter
NM_001322967.2:c.796C>T NP_001309896.1:p.Gln266Ter
NM_001322968.1:c.796C>T NP_001309897.1:p.Gln266Ter
NM_001322968.2:c.796C>T NP_001309897.1:p.Gln266Ter
NM_001322969.1:c.796C>T NP_001309898.1:p.Gln266Ter
NM_001322969.2:c.796C>T NP_001309898.1:p.Gln266Ter
NM_001322970.1:c.796C>T NP_001309899.1:p.Gln266Ter
NM_001322970.2:c.796C>T NP_001309899.1:p.Gln266Ter
NM_001322971.1:c.475C>T NP_001309900.1:p.Gln159Ter
NM_001322971.2:c.475C>T NP_001309900.1:p.Gln159Ter
NM_001322974.1:c.196C>T NP_001309903.1:p.Gln66Ter
NM_001322974.2:c.196C>T NP_001309903.1:p.Gln66Ter
ENST00000368845.5:c.796C>T ENSP00000357838.5:p.Gln266Ter
ENST00000467675.5:n.597C>T
ENST00000471127.1:n.306C>T
ENST00000539214.5:c.382C>T ENSP00000439042.1:p.Gln128Ter
XM_006717871.2:c.796C>T XP_006717934.1:p.Gln266Ter
XM_011539833.1:c.796C>T XP_011538135.1:p.Gln266Ter
XM_011539834.1:c.796C>T XP_011538136.1:p.Gln266Ter
XM_017016279.1:c.196C>T XP_016871768.1:p.Gln66Ter