Canonical Allele Identifier: CA378636064
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405435C>A , CM000672.2:g.124405435C>A GRCh38
NC_000010.10:g.126094004C>A , CM000672.1:g.126094004C>A GRCh37
NC_000010.9:g.126083994C>A NCBI36
NG_008861.1:g.18516G>T , LRG_685:g.18516G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368845.6:c.648+1G>T MANE Select ENSP00000357838.5:n.648+1G>T
ENST00000368845.5:c.648+1G>T ENSP00000357838.5:n.648+1G>T
ENST00000467675.5:n.449+1G>T
ENST00000483711.1:n.494+1G>T
ENST00000539214.5:c.234+1G>T ENSP00000439042.1:n.234+1G>T
NM_000274.3:c.648+1G>T , LRG_685t1:c.648+1G>T NP_000265.1:n.648+1G>T
NM_001171814.1:c.234+1G>T NP_001165285.1:n.234+1G>T
XM_006717871.2:c.648+1G>T XP_006717934.1:n.648+1G>T
XM_011539833.1:c.648+1G>T XP_011538135.1:n.648+1G>T
XM_011539834.1:c.648+1G>T XP_011538136.1:n.648+1G>T
NM_001322965.1:c.648+1G>T NP_001309894.1:n.648+1G>T
NM_001322966.1:c.648+1G>T NP_001309895.1:n.648+1G>T
NM_001322967.1:c.648+1G>T NP_001309896.1:n.648+1G>T
NM_001322968.1:c.648+1G>T NP_001309897.1:n.648+1G>T
NM_001322969.1:c.648+1G>T NP_001309898.1:n.648+1G>T
NM_001322970.1:c.648+1G>T NP_001309899.1:n.648+1G>T
NM_001322971.1:c.327+1G>T NP_001309900.1:n.327+1G>T
NM_001322974.1:c.48+1G>T NP_001309903.1:n.48+1G>T
XM_017016279.1:c.48+1G>T XP_016871768.1:n.48+1G>T
NM_000274.4:c.648+1G>T MANE Select NP_000265.1:n.648+1G>T
NM_001322965.2:c.648+1G>T NP_001309894.1:n.648+1G>T
NM_001322966.2:c.648+1G>T NP_001309895.1:n.648+1G>T
NM_001322967.2:c.648+1G>T NP_001309896.1:n.648+1G>T
NM_001322968.2:c.648+1G>T NP_001309897.1:n.648+1G>T
NM_001322969.2:c.648+1G>T NP_001309898.1:n.648+1G>T
NM_001322970.2:c.648+1G>T NP_001309899.1:n.648+1G>T
NM_001322971.2:c.327+1G>T NP_001309900.1:n.327+1G>T
NM_001322974.2:c.48+1G>T NP_001309903.1:n.48+1G>T
NM_001171814.2:c.234+1G>T NP_001165285.1:n.234+1G>T