Canonical Allele Identifier: CA381125897

Gene: SLC22A12

Linked Data

• MyVariant Identifiers: chr11:g.64366044T>G (hg19) ; chr11:g.64598572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598572T>G , CM000673.2:g.64598572T>G	GRCh38
NC_000011.9:g.64366044T>G , CM000673.1:g.64366044T>G	GRCh37
NC_000011.8:g.64122620T>G	NCBI36
NG_008110.1:g.12763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.887T>G MANE Select	ENSP00000366797.1:p.Leu296Arg
ENST00000336464.7:c.785T>G	ENSP00000336836.7:p.Leu262Arg
ENST00000377567.6:c.563T>G	ENSP00000366790.2:p.Leu188Arg
ENST00000377572.5:c.563T>G	ENSP00000366795.1:p.Leu188Arg
ENST00000377574.5:c.887T>G	ENSP00000366797.1:p.Leu296Arg
ENST00000473690.5:c.224T>G	ENSP00000438437.1:p.Leu75Arg
NM_001276326.1:c.785T>G	NP_001263255.1:p.Leu262Arg
NM_001276327.1:c.563T>G	NP_001263256.1:p.Leu188Arg
NM_144585.3:c.887T>G	NP_653186.2:p.Leu296Arg
NM_153378.2:c.224T>G	NP_700357.1:p.Leu75Arg
XM_006718430.2:c.962T>G	XP_006718493.1:p.Leu321Arg
XM_006718431.2:c.857T>G	XP_006718494.1:p.Leu286Arg
XM_006718430.4:c.962T>G	XP_006718493.1:p.Leu321Arg
XM_006718431.4:c.857T>G	XP_006718494.1:p.Leu286Arg
NM_144585.4:c.887T>G MANE Select	NP_653186.2:p.Leu296Arg
NM_001276326.2:c.785T>G	NP_001263255.1:p.Leu262Arg
NM_153378.3:c.224T>G	NP_700357.1:p.Leu75Arg
NM_001276327.2:c.563T>G	NP_001263256.1:p.Leu188Arg