Canonical Allele Identifier: CA2574709520
Community Standard Title: NM_000274.4(OAT):c.581dup (p.Tyr194Ter)
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405503dup , CM000672.2:g.124405503dup GRCh38
NC_000010.10:g.126094072dup , CM000672.1:g.126094072dup GRCh37
NC_000010.9:g.126084062dup NCBI36
NG_008861.1:g.18448dup , LRG_685:g.18448dup

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.581dup MANE Select NP_000265.1:p.Tyr194Ter
ENST00000368845.6:c.581dup MANE Select ENSP00000357838.5:p.Tyr194Ter
NM_000274.3:c.581dup , LRG_685t1:c.581dup NP_000265.1:p.Tyr194Ter
NM_001171814.1:c.167dup NP_001165285.1:p.Tyr56Ter
NM_001171814.2:c.167dup NP_001165285.1:p.Tyr56Ter
NM_001322965.1:c.581dup NP_001309894.1:p.Tyr194Ter
NM_001322965.2:c.581dup NP_001309894.1:p.Tyr194Ter
NM_001322966.1:c.581dup NP_001309895.1:p.Tyr194Ter
NM_001322966.2:c.581dup NP_001309895.1:p.Tyr194Ter
NM_001322967.1:c.581dup NP_001309896.1:p.Tyr194Ter
NM_001322967.2:c.581dup NP_001309896.1:p.Tyr194Ter
NM_001322968.1:c.581dup NP_001309897.1:p.Tyr194Ter
NM_001322968.2:c.581dup NP_001309897.1:p.Tyr194Ter
NM_001322969.1:c.581dup NP_001309898.1:p.Tyr194Ter
NM_001322969.2:c.581dup NP_001309898.1:p.Tyr194Ter
NM_001322970.1:c.581dup NP_001309899.1:p.Tyr194Ter
NM_001322970.2:c.581dup NP_001309899.1:p.Tyr194Ter
NM_001322971.1:c.260dup NP_001309900.1:p.Tyr87Ter
NM_001322971.2:c.260dup NP_001309900.1:p.Tyr87Ter
NM_001322974.1:c.-20dup NP_001309903.1:n.-20dup
NM_001322974.2:c.-20dup NP_001309903.1:n.-20dup
ENST00000368845.5:c.581dup ENSP00000357838.5:p.Tyr194Ter
ENST00000467675.5:n.382dup
ENST00000483711.1:n.427dup
ENST00000539214.5:c.167dup ENSP00000439042.1:p.Tyr56Ter
XM_006717871.2:c.581dup XP_006717934.1:p.Tyr194Ter
XM_011539833.1:c.581dup XP_011538135.1:p.Tyr194Ter
XM_011539834.1:c.581dup XP_011538136.1:p.Tyr194Ter
XM_017016279.1:c.-20dup XP_016871768.1:n.-20dup