Canonical Allele Identifier: CA5733573

Gene: OAT

Linked Data

• ClinVar Variation Id: 571759
• ClinVar RCV Id: RCV000692988
• dbSNP Id: rs1564737136
• ExAC: 10:126097511 CTTCTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAA / C
• gnomAD v2: 10-126097511-CTTCTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAA-C
• gnomAD v4: 10-124408942-CTTCTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAA-C
• MyVariant Identifiers: chr10:g.126097512_126097570del (hg19) ; chr10:g.124408943_124409001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408945_124409003del , CM000672.2:g.124408945_124409003del	GRCh38
NC_000010.10:g.126097514_126097572del , CM000672.1:g.126097514_126097572del	GRCh37
NC_000010.9:g.126087504_126087562del	NCBI36
NG_008861.1:g.14950_15008del , LRG_685:g.14950_15008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.200-36_222del
ENST00000368845.5:c.200-36_222del
ENST00000476917.5:n.265-36_287del
ENST00000490096.5:n.436-36_458del
ENST00000492376.1:n.548-36_570del
ENST00000539214.5:c.-215-36_-193del
NM_000274.3:c.200-36_222del , LRG_685t1:c.200-36_222del
NM_001171814.1:c.-215-36_-193del
XM_006717871.2:c.200-36_222del
XM_011539833.1:c.200-36_222del
XM_011539834.1:c.200-36_222del
NM_001322965.1:c.200-36_222del
NM_001322966.1:c.200-36_222del
NM_001322967.1:c.200-36_222del
NM_001322968.1:c.200-36_222del
NM_001322969.1:c.200-36_222del
NM_001322970.1:c.200-36_222del
NM_001322971.1:c.199+2972_199+3030del	NP_001309900.1:n.199+2972_199+3030del
NM_001322974.1:c.-515-36_-493del
XM_017016279.1:c.-2254-36_-2232del
NM_000274.4:c.200-36_222del
NM_001322965.2:c.200-36_222del
NM_001322966.2:c.200-36_222del
NM_001322967.2:c.200-36_222del
NM_001322968.2:c.200-36_222del
NM_001322969.2:c.200-36_222del
NM_001322970.2:c.200-36_222del
NM_001322971.2:c.199+2972_199+3030del	NP_001309900.1:n.199+2972_199+3030del
NM_001322974.2:c.-515-36_-493del
NM_001171814.2:c.-215-36_-193del