Canonical Allele Identifier: CA381125605

Gene: SLC22A12

Linked Data

• dbSNP Id: rs2039328669
• gnomAD v3: 11-64598538-T-C
• gnomAD v4: 11-64598538-T-C
• MyVariant Identifiers: chr11:g.64366010T>C (hg19) ; chr11:g.64598538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598538T>C , CM000673.2:g.64598538T>C	GRCh38
NC_000011.9:g.64366010T>C , CM000673.1:g.64366010T>C	GRCh37
NC_000011.8:g.64122586T>C	NCBI36
NG_008110.1:g.12729T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.853T>C MANE Select	ENSP00000366797.1:p.Trp285Arg
ENST00000336464.7:c.751T>C	ENSP00000336836.7:p.Trp251Arg
ENST00000377567.6:c.529T>C	ENSP00000366790.2:p.Trp177Arg
ENST00000377572.5:c.529T>C	ENSP00000366795.1:p.Trp177Arg
ENST00000377574.5:c.853T>C	ENSP00000366797.1:p.Trp285Arg
ENST00000473690.5:c.190T>C	ENSP00000438437.1:p.Trp64Arg
NM_001276326.1:c.751T>C	NP_001263255.1:p.Trp251Arg
NM_001276327.1:c.529T>C	NP_001263256.1:p.Trp177Arg
NM_144585.3:c.853T>C	NP_653186.2:p.Trp285Arg
NM_153378.2:c.190T>C	NP_700357.1:p.Trp64Arg
XM_006718430.2:c.928T>C	XP_006718493.1:p.Trp310Arg
XM_006718431.2:c.823T>C	XP_006718494.1:p.Trp275Arg
XM_006718430.4:c.928T>C	XP_006718493.1:p.Trp310Arg
XM_006718431.4:c.823T>C	XP_006718494.1:p.Trp275Arg
NM_144585.4:c.853T>C MANE Select	NP_653186.2:p.Trp285Arg
NM_001276326.2:c.751T>C	NP_001263255.1:p.Trp251Arg
NM_153378.3:c.190T>C	NP_700357.1:p.Trp64Arg
NM_001276327.2:c.529T>C	NP_001263256.1:p.Trp177Arg