Canonical Allele Identifier: CA378636924
Community Standard Title: NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124408564G>C , CM000672.2:g.124408564G>C GRCh38
NC_000010.10:g.126097133G>C , CM000672.1:g.126097133G>C GRCh37
NC_000010.9:g.126087123G>C NCBI36
NG_008861.1:g.15387C>G , LRG_685:g.15387C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.498C>G MANE Select NP_000265.1:p.Tyr166Ter
ENST00000368845.6:c.498C>G MANE Select ENSP00000357838.5:p.Tyr166Ter
NM_000274.3:c.498C>G , LRG_685t1:c.498C>G NP_000265.1:p.Tyr166Ter
NM_001171814.1:c.84C>G NP_001165285.1:p.Tyr28Ter
NM_001171814.2:c.84C>G NP_001165285.1:p.Tyr28Ter
NM_001322965.1:c.498C>G NP_001309894.1:p.Tyr166Ter
NM_001322965.2:c.498C>G NP_001309894.1:p.Tyr166Ter
NM_001322966.1:c.498C>G NP_001309895.1:p.Tyr166Ter
NM_001322966.2:c.498C>G NP_001309895.1:p.Tyr166Ter
NM_001322967.1:c.498C>G NP_001309896.1:p.Tyr166Ter
NM_001322967.2:c.498C>G NP_001309896.1:p.Tyr166Ter
NM_001322968.1:c.498C>G NP_001309897.1:p.Tyr166Ter
NM_001322968.2:c.498C>G NP_001309897.1:p.Tyr166Ter
NM_001322969.1:c.498C>G NP_001309898.1:p.Tyr166Ter
NM_001322969.2:c.498C>G NP_001309898.1:p.Tyr166Ter
NM_001322970.1:c.498C>G NP_001309899.1:p.Tyr166Ter
NM_001322970.2:c.498C>G NP_001309899.1:p.Tyr166Ter
NM_001322971.1:c.200-3001C>G NP_001309900.1:n.200-3001C>G
NM_001322971.2:c.200-3001C>G NP_001309900.1:n.200-3001C>G
NM_001322974.1:c.-217C>G NP_001309903.1:n.-217C>G
NM_001322974.2:c.-217C>G NP_001309903.1:n.-217C>G
ENST00000368845.5:c.498C>G ENSP00000357838.5:p.Tyr166Ter
ENST00000467675.5:n.125C>G
ENST00000476917.5:n.563C>G
ENST00000539214.5:c.84C>G ENSP00000439042.1:p.Tyr28Ter
XM_006717871.2:c.498C>G XP_006717934.1:p.Tyr166Ter
XM_011539833.1:c.498C>G XP_011538135.1:p.Tyr166Ter
XM_011539834.1:c.498C>G XP_011538136.1:p.Tyr166Ter
XM_017016279.1:c.-1956C>G XP_016871768.1:n.-1956C>G