Canonical Allele Identifier: CA378635946
Community Standard Title: NM_000274.4(OAT):c.649-1G>C
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124403921C>G , CM000672.2:g.124403921C>G GRCh38
NC_000010.10:g.126092490C>G , CM000672.1:g.126092490C>G GRCh37
NC_000010.9:g.126082480C>G NCBI36
NG_008861.1:g.20030G>C , LRG_685:g.20030G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000274.4:c.649-1G>C MANE Select NP_000265.1:n.649-1G>C
ENST00000368845.6:c.649-1G>C MANE Select ENSP00000357838.5:n.649-1G>C
NM_000274.3:c.649-1G>C , LRG_685t1:c.649-1G>C NP_000265.1:n.649-1G>C
NM_001171814.1:c.235-1G>C NP_001165285.1:n.235-1G>C
NM_001171814.2:c.235-1G>C NP_001165285.1:n.235-1G>C
NM_001322965.1:c.649-1G>C NP_001309894.1:n.649-1G>C
NM_001322965.2:c.649-1G>C NP_001309894.1:n.649-1G>C
NM_001322966.1:c.649-1G>C NP_001309895.1:n.649-1G>C
NM_001322966.2:c.649-1G>C NP_001309895.1:n.649-1G>C
NM_001322967.1:c.649-1G>C NP_001309896.1:n.649-1G>C
NM_001322967.2:c.649-1G>C NP_001309896.1:n.649-1G>C
NM_001322968.1:c.649-1G>C NP_001309897.1:n.649-1G>C
NM_001322968.2:c.649-1G>C NP_001309897.1:n.649-1G>C
NM_001322969.1:c.649-1G>C NP_001309898.1:n.649-1G>C
NM_001322969.2:c.649-1G>C NP_001309898.1:n.649-1G>C
NM_001322970.1:c.649-1G>C NP_001309899.1:n.649-1G>C
NM_001322970.2:c.649-1G>C NP_001309899.1:n.649-1G>C
NM_001322971.1:c.328-1G>C NP_001309900.1:n.328-1G>C
NM_001322971.2:c.328-1G>C NP_001309900.1:n.328-1G>C
NM_001322974.1:c.49-1G>C NP_001309903.1:n.49-1G>C
NM_001322974.2:c.49-1G>C NP_001309903.1:n.49-1G>C
ENST00000368845.5:c.649-1G>C ENSP00000357838.5:n.649-1G>C
ENST00000467675.5:n.450-1G>C
ENST00000483711.1:n.495-1G>C
ENST00000539214.5:c.235-1G>C ENSP00000439042.1:n.235-1G>C
XM_006717871.2:c.649-1G>C XP_006717934.1:n.649-1G>C
XM_011539833.1:c.649-1G>C XP_011538135.1:n.649-1G>C
XM_011539834.1:c.649-1G>C XP_011538136.1:n.649-1G>C
XM_017016279.1:c.49-1G>C XP_016871768.1:n.49-1G>C