Canonical Allele Identifier: CA113998

Gene: OAT

Linked Data

• ClinVar Variation Id: 176
• ClinVar RCV Id: RCV003237409
• dbSNP Id: rs121965057
• ExAC: 10:126091499 G / C
• gnomAD v2: 10-126091499-G-C
• gnomAD v3: 10-124402930-G-C
• gnomAD v4: 10-124402930-G-C
• MyVariant Identifiers: chr10:g.126091499G>C (hg19) ; chr10:g.124402930G>C (hg38)
• PubMed: PMID:1609808

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124402930G>C , CM000672.2:g.124402930G>C	GRCh38
NC_000010.10:g.126091499G>C , CM000672.1:g.126091499G>C	GRCh37
NC_000010.9:g.126081489G>C	NCBI36
NG_008861.1:g.21021C>G , LRG_685:g.21021C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.897C>G MANE Select	ENSP00000357838.5:p.Tyr299Ter
ENST00000368845.5:c.897C>G	ENSP00000357838.5:p.Tyr299Ter
ENST00000467675.5:n.698C>G
ENST00000471127.1:n.407C>G
ENST00000539214.5:c.483C>G	ENSP00000439042.1:p.Tyr161Ter
NM_000274.3:c.897C>G , LRG_685t1:c.897C>G	NP_000265.1:p.Tyr299Ter
NM_001171814.1:c.483C>G	NP_001165285.1:p.Tyr161Ter
XM_006717871.2:c.897C>G	XP_006717934.1:p.Tyr299Ter
XM_011539833.1:c.897C>G	XP_011538135.1:p.Tyr299Ter
XM_011539834.1:c.897C>G	XP_011538136.1:p.Tyr299Ter
NM_001322965.1:c.897C>G	NP_001309894.1:p.Tyr299Ter
NM_001322966.1:c.897C>G	NP_001309895.1:p.Tyr299Ter
NM_001322967.1:c.897C>G	NP_001309896.1:p.Tyr299Ter
NM_001322968.1:c.897C>G	NP_001309897.1:p.Tyr299Ter
NM_001322969.1:c.897C>G	NP_001309898.1:p.Tyr299Ter
NM_001322970.1:c.897C>G	NP_001309899.1:p.Tyr299Ter
NM_001322971.1:c.576C>G	NP_001309900.1:p.Tyr192Ter
NM_001322974.1:c.297C>G	NP_001309903.1:p.Tyr99Ter
XM_017016279.1:c.297C>G	XP_016871768.1:p.Tyr99Ter
NM_000274.4:c.897C>G MANE Select	NP_000265.1:p.Tyr299Ter
NM_001322965.2:c.897C>G	NP_001309894.1:p.Tyr299Ter
NM_001322966.2:c.897C>G	NP_001309895.1:p.Tyr299Ter
NM_001322967.2:c.897C>G	NP_001309896.1:p.Tyr299Ter
NM_001322968.2:c.897C>G	NP_001309897.1:p.Tyr299Ter
NM_001322969.2:c.897C>G	NP_001309898.1:p.Tyr299Ter
NM_001322970.2:c.897C>G	NP_001309899.1:p.Tyr299Ter
NM_001322971.2:c.576C>G	NP_001309900.1:p.Tyr192Ter
NM_001322974.2:c.297C>G	NP_001309903.1:p.Tyr99Ter
NM_001171814.2:c.483C>G	NP_001165285.1:p.Tyr161Ter