Canonical Allele Identifier: CA144141
Gene: OAT HGNC NCBI

Linked Data

ClinVar Variation Id: 56116
dbSNP Id: rs1800456

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124397951C>A , CM000672.2:g.124397951C>A GRCh38
NC_000010.10:g.126086520C>A , CM000672.1:g.126086520C>A GRCh37
NC_000010.9:g.126076510C>A NCBI36
NG_008861.1:g.26000G>T , LRG_685:g.26000G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.1311G>T MANE Select ENSP00000357838.5:p.Leu437Phe
ENST00000368845.5:c.1311G>T ENSP00000357838.5:p.Leu437Phe
ENST00000539214.5:c.897G>T ENSP00000439042.1:p.Leu299Phe
NM_000274.3:c.1311G>T , LRG_685t1:c.1311G>T NP_000265.1:p.Leu437Phe
NM_001171814.1:c.897G>T NP_001165285.1:p.Leu299Phe
XM_006717871.2:c.1311G>T XP_006717934.1:p.Leu437Phe
XM_011539833.1:c.1311G>T XP_011538135.1:p.Leu437Phe
XM_011539834.1:c.1311G>T XP_011538136.1:p.Leu437Phe
NM_001322965.1:c.1311G>T NP_001309894.1:p.Leu437Phe
NM_001322966.1:c.1311G>T NP_001309895.1:p.Leu437Phe
NM_001322967.1:c.1311G>T NP_001309896.1:p.Leu437Phe
NM_001322968.1:c.1311G>T NP_001309897.1:p.Leu437Phe
NM_001322969.1:c.1311G>T NP_001309898.1:p.Leu437Phe
NM_001322970.1:c.1311G>T NP_001309899.1:p.Leu437Phe
NM_001322971.1:c.990G>T NP_001309900.1:p.Leu330Phe
NM_001322974.1:c.711G>T NP_001309903.1:p.Leu237Phe
XM_017016279.1:c.711G>T XP_016871768.1:p.Leu237Phe
NM_000274.4:c.1311G>T MANE Select NP_000265.1:p.Leu437Phe
NM_001322965.2:c.1311G>T NP_001309894.1:p.Leu437Phe
NM_001322966.2:c.1311G>T NP_001309895.1:p.Leu437Phe
NM_001322967.2:c.1311G>T NP_001309896.1:p.Leu437Phe
NM_001322968.2:c.1311G>T NP_001309897.1:p.Leu437Phe
NM_001322969.2:c.1311G>T NP_001309898.1:p.Leu437Phe
NM_001322970.2:c.1311G>T NP_001309899.1:p.Leu437Phe
NM_001322971.2:c.990G>T NP_001309900.1:p.Leu330Phe
NM_001322974.2:c.711G>T NP_001309903.1:p.Leu237Phe
NM_001171814.2:c.897G>T NP_001165285.1:p.Leu299Phe