Canonical Allele Identifier: CA378635718

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124403810G>T , CM000672.2:g.124403810G>T	GRCh38
NC_000010.10:g.126092379G>T , CM000672.1:g.126092379G>T	GRCh37
NC_000010.9:g.126082369G>T	NCBI36
NG_008861.1:g.20141C>A , LRG_685:g.20141C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000274.4:c.759C>A MANE Select	NP_000265.1:p.Cys253Ter
ENST00000368845.6:c.759C>A MANE Select	ENSP00000357838.5:p.Cys253Ter
NM_000274.3:c.759C>A , LRG_685t1:c.759C>A	NP_000265.1:p.Cys253Ter
NM_001171814.1:c.345C>A	NP_001165285.1:p.Cys115Ter
NM_001171814.2:c.345C>A	NP_001165285.1:p.Cys115Ter
NM_001322965.1:c.759C>A	NP_001309894.1:p.Cys253Ter
NM_001322965.2:c.759C>A	NP_001309894.1:p.Cys253Ter
NM_001322966.1:c.759C>A	NP_001309895.1:p.Cys253Ter
NM_001322966.2:c.759C>A	NP_001309895.1:p.Cys253Ter
NM_001322967.1:c.759C>A	NP_001309896.1:p.Cys253Ter
NM_001322967.2:c.759C>A	NP_001309896.1:p.Cys253Ter
NM_001322968.1:c.759C>A	NP_001309897.1:p.Cys253Ter
NM_001322968.2:c.759C>A	NP_001309897.1:p.Cys253Ter
NM_001322969.1:c.759C>A	NP_001309898.1:p.Cys253Ter
NM_001322969.2:c.759C>A	NP_001309898.1:p.Cys253Ter
NM_001322970.1:c.759C>A	NP_001309899.1:p.Cys253Ter
NM_001322970.2:c.759C>A	NP_001309899.1:p.Cys253Ter
NM_001322971.1:c.438C>A	NP_001309900.1:p.Cys146Ter
NM_001322971.2:c.438C>A	NP_001309900.1:p.Cys146Ter
NM_001322974.1:c.159C>A	NP_001309903.1:p.Cys53Ter
NM_001322974.2:c.159C>A	NP_001309903.1:p.Cys53Ter
ENST00000368845.5:c.759C>A	ENSP00000357838.5:p.Cys253Ter
ENST00000467675.5:n.560C>A
ENST00000539214.5:c.345C>A	ENSP00000439042.1:p.Cys115Ter
XM_006717871.2:c.759C>A	XP_006717934.1:p.Cys253Ter
XM_011539833.1:c.759C>A	XP_011538135.1:p.Cys253Ter
XM_011539834.1:c.759C>A	XP_011538136.1:p.Cys253Ter
XM_017016279.1:c.159C>A	XP_016871768.1:p.Cys53Ter