Canonical Allele Identifier: CA378636072

Gene: OAT

Linked Data

• ClinVar Variation Id: 942676
• ClinVar RCV Id: RCV001212701
• dbSNP Id: rs1951546023
• MyVariant Identifiers: chr10:g.126094004C>T (hg19) ; chr10:g.124405435C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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