Canonical Allele Identifier: CA381125635

Gene: SLC22A12

Linked Data

• dbSNP Id: rs746191331
• gnomAD v3: 11-64598541-C-G
• gnomAD v4: 11-64598541-C-G
• MyVariant Identifiers: chr11:g.64366013C>G (hg19) ; chr11:g.64598541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598541C>G , CM000673.2:g.64598541C>G	GRCh38
NC_000011.9:g.64366013C>G , CM000673.1:g.64366013C>G	GRCh37
NC_000011.8:g.64122589C>G	NCBI36
NG_008110.1:g.12732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.856C>G MANE Select	ENSP00000366797.1:p.Leu286Val
ENST00000336464.7:c.754C>G	ENSP00000336836.7:p.Leu252Val
ENST00000377567.6:c.532C>G	ENSP00000366790.2:p.Leu178Val
ENST00000377572.5:c.532C>G	ENSP00000366795.1:p.Leu178Val
ENST00000377574.5:c.856C>G	ENSP00000366797.1:p.Leu286Val
ENST00000473690.5:c.193C>G	ENSP00000438437.1:p.Leu65Val
NM_001276326.1:c.754C>G	NP_001263255.1:p.Leu252Val
NM_001276327.1:c.532C>G	NP_001263256.1:p.Leu178Val
NM_144585.3:c.856C>G	NP_653186.2:p.Leu286Val
NM_153378.2:c.193C>G	NP_700357.1:p.Leu65Val
XM_006718430.2:c.931C>G	XP_006718493.1:p.Leu311Val
XM_006718431.2:c.826C>G	XP_006718494.1:p.Leu276Val
XM_006718430.4:c.931C>G	XP_006718493.1:p.Leu311Val
XM_006718431.4:c.826C>G	XP_006718494.1:p.Leu276Val
NM_144585.4:c.856C>G MANE Select	NP_653186.2:p.Leu286Val
NM_001276326.2:c.754C>G	NP_001263255.1:p.Leu252Val
NM_153378.3:c.193C>G	NP_700357.1:p.Leu65Val
NM_001276327.2:c.532C>G	NP_001263256.1:p.Leu178Val