Canonical Allele Identifier: CA378636222
Gene: OAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124405462G>C , CM000672.2:g.124405462G>C GRCh38
NC_000010.10:g.126094031G>C , CM000672.1:g.126094031G>C GRCh37
NC_000010.9:g.126084021G>C NCBI36
NG_008861.1:g.18489C>G , LRG_685:g.18489C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.622C>G MANE Select ENSP00000357838.5:p.Pro208Ala
ENST00000368845.5:c.622C>G ENSP00000357838.5:p.Pro208Ala
ENST00000467675.5:n.423C>G
ENST00000483711.1:n.468C>G
ENST00000539214.5:c.208C>G ENSP00000439042.1:p.Pro70Ala
NM_000274.3:c.622C>G , LRG_685t1:c.622C>G NP_000265.1:p.Pro208Ala
NM_001171814.1:c.208C>G NP_001165285.1:p.Pro70Ala
XM_006717871.2:c.622C>G XP_006717934.1:p.Pro208Ala
XM_011539833.1:c.622C>G XP_011538135.1:p.Pro208Ala
XM_011539834.1:c.622C>G XP_011538136.1:p.Pro208Ala
NM_001322965.1:c.622C>G NP_001309894.1:p.Pro208Ala
NM_001322966.1:c.622C>G NP_001309895.1:p.Pro208Ala
NM_001322967.1:c.622C>G NP_001309896.1:p.Pro208Ala
NM_001322968.1:c.622C>G NP_001309897.1:p.Pro208Ala
NM_001322969.1:c.622C>G NP_001309898.1:p.Pro208Ala
NM_001322970.1:c.622C>G NP_001309899.1:p.Pro208Ala
NM_001322971.1:c.301C>G NP_001309900.1:p.Pro101Ala
NM_001322974.1:c.22C>G NP_001309903.1:p.Pro8Ala
XM_017016279.1:c.22C>G XP_016871768.1:p.Pro8Ala
NM_000274.4:c.622C>G MANE Select NP_000265.1:p.Pro208Ala
NM_001322965.2:c.622C>G NP_001309894.1:p.Pro208Ala
NM_001322966.2:c.622C>G NP_001309895.1:p.Pro208Ala
NM_001322967.2:c.622C>G NP_001309896.1:p.Pro208Ala
NM_001322968.2:c.622C>G NP_001309897.1:p.Pro208Ala
NM_001322969.2:c.622C>G NP_001309898.1:p.Pro208Ala
NM_001322970.2:c.622C>G NP_001309899.1:p.Pro208Ala
NM_001322971.2:c.301C>G NP_001309900.1:p.Pro101Ala
NM_001322974.2:c.22C>G NP_001309903.1:p.Pro8Ala
NM_001171814.2:c.208C>G NP_001165285.1:p.Pro70Ala