Canonical Allele Identifier: CA381126003

Gene: SLC22A12

Linked Data

• MyVariant Identifiers: chr11:g.64366057G>C (hg19) ; chr11:g.64598585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598585G>C , CM000673.2:g.64598585G>C	GRCh38
NC_000011.9:g.64366057G>C , CM000673.1:g.64366057G>C	GRCh37
NC_000011.8:g.64122633G>C	NCBI36
NG_008110.1:g.12776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.900G>C MANE Select	ENSP00000366797.1:p.Trp300Cys
ENST00000336464.7:c.798G>C	ENSP00000336836.7:p.Trp266Cys
ENST00000377567.6:c.576G>C	ENSP00000366790.2:p.Trp192Cys
ENST00000377572.5:c.576G>C	ENSP00000366795.1:p.Trp192Cys
ENST00000377574.5:c.900G>C	ENSP00000366797.1:p.Trp300Cys
ENST00000473690.5:c.237G>C	ENSP00000438437.1:p.Trp79Cys
NM_001276326.1:c.798G>C	NP_001263255.1:p.Trp266Cys
NM_001276327.1:c.576G>C	NP_001263256.1:p.Trp192Cys
NM_144585.3:c.900G>C	NP_653186.2:p.Trp300Cys
NM_153378.2:c.237G>C	NP_700357.1:p.Trp79Cys
XM_006718430.2:c.975G>C	XP_006718493.1:p.Trp325Cys
XM_006718431.2:c.870G>C	XP_006718494.1:p.Trp290Cys
XM_006718430.4:c.975G>C	XP_006718493.1:p.Trp325Cys
XM_006718431.4:c.870G>C	XP_006718494.1:p.Trp290Cys
NM_144585.4:c.900G>C MANE Select	NP_653186.2:p.Trp300Cys
NM_001276326.2:c.798G>C	NP_001263255.1:p.Trp266Cys
NM_153378.3:c.237G>C	NP_700357.1:p.Trp79Cys
NM_001276327.2:c.576G>C	NP_001263256.1:p.Trp192Cys