Canonical Allele Identifier: CA378637564
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124408951C>G , CM000672.2:g.124408951C>G GRCh38
NC_000010.10:g.126097520C>G , CM000672.1:g.126097520C>G GRCh37
NC_000010.9:g.126087510C>G NCBI36
NG_008861.1:g.15000G>C , LRG_685:g.15000G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.214G>C MANE Select ENSP00000357838.5:p.Asp72His
ENST00000368845.5:c.214G>C ENSP00000357838.5:p.Asp72His
ENST00000476917.5:n.279G>C
ENST00000490096.5:n.450G>C
ENST00000492376.1:n.562G>C
ENST00000539214.5:c.-201G>C ENSP00000439042.1:n.-201G>C
NM_000274.3:c.214G>C , LRG_685t1:c.214G>C NP_000265.1:p.Asp72His
NM_001171814.1:c.-201G>C NP_001165285.1:n.-201G>C
XM_006717871.2:c.214G>C XP_006717934.1:p.Asp72His
XM_011539833.1:c.214G>C XP_011538135.1:p.Asp72His
XM_011539834.1:c.214G>C XP_011538136.1:p.Asp72His
NM_001322965.1:c.214G>C NP_001309894.1:p.Asp72His
NM_001322966.1:c.214G>C NP_001309895.1:p.Asp72His
NM_001322967.1:c.214G>C NP_001309896.1:p.Asp72His
NM_001322968.1:c.214G>C NP_001309897.1:p.Asp72His
NM_001322969.1:c.214G>C NP_001309898.1:p.Asp72His
NM_001322970.1:c.214G>C NP_001309899.1:p.Asp72His
NM_001322971.1:c.199+3022G>C NP_001309900.1:n.199+3022G>C
NM_001322974.1:c.-501G>C NP_001309903.1:n.-501G>C
XM_017016279.1:c.-2240G>C XP_016871768.1:n.-2240G>C
NM_000274.4:c.214G>C MANE Select NP_000265.1:p.Asp72His
NM_001322965.2:c.214G>C NP_001309894.1:p.Asp72His
NM_001322966.2:c.214G>C NP_001309895.1:p.Asp72His
NM_001322967.2:c.214G>C NP_001309896.1:p.Asp72His
NM_001322968.2:c.214G>C NP_001309897.1:p.Asp72His
NM_001322969.2:c.214G>C NP_001309898.1:p.Asp72His
NM_001322970.2:c.214G>C NP_001309899.1:p.Asp72His
NM_001322971.2:c.199+3022G>C NP_001309900.1:n.199+3022G>C
NM_001322974.2:c.-501G>C NP_001309903.1:n.-501G>C
NM_001171814.2:c.-201G>C NP_001165285.1:n.-201G>C