Canonical Allele Identifier: CA381125778

Gene: SLC22A12

Linked Data

• MyVariant Identifiers: chr11:g.64366032T>G (hg19) ; chr11:g.64598560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598560T>G , CM000673.2:g.64598560T>G	GRCh38
NC_000011.9:g.64366032T>G , CM000673.1:g.64366032T>G	GRCh37
NC_000011.8:g.64122608T>G	NCBI36
NG_008110.1:g.12751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.875T>G MANE Select	ENSP00000366797.1:p.Leu292Arg
ENST00000336464.7:c.773T>G	ENSP00000336836.7:p.Leu258Arg
ENST00000377567.6:c.551T>G	ENSP00000366790.2:p.Leu184Arg
ENST00000377572.5:c.551T>G	ENSP00000366795.1:p.Leu184Arg
ENST00000377574.5:c.875T>G	ENSP00000366797.1:p.Leu292Arg
ENST00000473690.5:c.212T>G	ENSP00000438437.1:p.Leu71Arg
NM_001276326.1:c.773T>G	NP_001263255.1:p.Leu258Arg
NM_001276327.1:c.551T>G	NP_001263256.1:p.Leu184Arg
NM_144585.3:c.875T>G	NP_653186.2:p.Leu292Arg
NM_153378.2:c.212T>G	NP_700357.1:p.Leu71Arg
XM_006718430.2:c.950T>G	XP_006718493.1:p.Leu317Arg
XM_006718431.2:c.845T>G	XP_006718494.1:p.Leu282Arg
XM_006718430.4:c.950T>G	XP_006718493.1:p.Leu317Arg
XM_006718431.4:c.845T>G	XP_006718494.1:p.Leu282Arg
NM_144585.4:c.875T>G MANE Select	NP_653186.2:p.Leu292Arg
NM_001276326.2:c.773T>G	NP_001263255.1:p.Leu258Arg
NM_153378.3:c.212T>G	NP_700357.1:p.Leu71Arg
NM_001276327.2:c.551T>G	NP_001263256.1:p.Leu184Arg