Canonical Allele Identifier: CA5733450

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124403820C>T , CM000672.2:g.124403820C>T	GRCh38
NC_000010.10:g.126092389C>T , CM000672.1:g.126092389C>T	GRCh37
NC_000010.9:g.126082379C>T	NCBI36
NG_008861.1:g.20131G>A , LRG_685:g.20131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.749G>A MANE Select	ENSP00000357838.5:p.Arg250Gln
ENST00000368845.5:c.749G>A	ENSP00000357838.5:p.Arg250Gln
ENST00000467675.5:n.550G>A
ENST00000539214.5:c.335G>A	ENSP00000439042.1:p.Arg112Gln
NM_000274.3:c.749G>A , LRG_685t1:c.749G>A	NP_000265.1:p.Arg250Gln
NM_001171814.1:c.335G>A	NP_001165285.1:p.Arg112Gln
XM_006717871.2:c.749G>A	XP_006717934.1:p.Arg250Gln
XM_011539833.1:c.749G>A	XP_011538135.1:p.Arg250Gln
XM_011539834.1:c.749G>A	XP_011538136.1:p.Arg250Gln
NM_001322965.1:c.749G>A	NP_001309894.1:p.Arg250Gln
NM_001322966.1:c.749G>A	NP_001309895.1:p.Arg250Gln
NM_001322967.1:c.749G>A	NP_001309896.1:p.Arg250Gln
NM_001322968.1:c.749G>A	NP_001309897.1:p.Arg250Gln
NM_001322969.1:c.749G>A	NP_001309898.1:p.Arg250Gln
NM_001322970.1:c.749G>A	NP_001309899.1:p.Arg250Gln
NM_001322971.1:c.428G>A	NP_001309900.1:p.Arg143Gln
NM_001322974.1:c.149G>A	NP_001309903.1:p.Arg50Gln
XM_017016279.1:c.149G>A	XP_016871768.1:p.Arg50Gln
NM_000274.4:c.749G>A MANE Select	NP_000265.1:p.Arg250Gln
NM_001322965.2:c.749G>A	NP_001309894.1:p.Arg250Gln
NM_001322966.2:c.749G>A	NP_001309895.1:p.Arg250Gln
NM_001322967.2:c.749G>A	NP_001309896.1:p.Arg250Gln
NM_001322968.2:c.749G>A	NP_001309897.1:p.Arg250Gln
NM_001322969.2:c.749G>A	NP_001309898.1:p.Arg250Gln
NM_001322970.2:c.749G>A	NP_001309899.1:p.Arg250Gln
NM_001322971.2:c.428G>A	NP_001309900.1:p.Arg143Gln
NM_001322974.2:c.149G>A	NP_001309903.1:p.Arg50Gln
NM_001171814.2:c.335G>A	NP_001165285.1:p.Arg112Gln