Canonical Allele Identifier: CA381126020

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598587-G-T
• MyVariant Identifiers: chr11:g.64366059G>T (hg19) ; chr11:g.64598587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598587G>T , CM000673.2:g.64598587G>T	GRCh38
NC_000011.9:g.64366059G>T , CM000673.1:g.64366059G>T	GRCh37
NC_000011.8:g.64122635G>T	NCBI36
NG_008110.1:g.12778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.902G>T MANE Select	ENSP00000366797.1:p.Arg301Met
ENST00000336464.7:c.800G>T	ENSP00000336836.7:p.Arg267Met
ENST00000377567.6:c.578G>T	ENSP00000366790.2:p.Arg193Met
ENST00000377572.5:c.578G>T	ENSP00000366795.1:p.Arg193Met
ENST00000377574.5:c.902G>T	ENSP00000366797.1:p.Arg301Met
ENST00000473690.5:c.239G>T	ENSP00000438437.1:p.Arg80Met
NM_001276326.1:c.800G>T	NP_001263255.1:p.Arg267Met
NM_001276327.1:c.578G>T	NP_001263256.1:p.Arg193Met
NM_144585.3:c.902G>T	NP_653186.2:p.Arg301Met
NM_153378.2:c.239G>T	NP_700357.1:p.Arg80Met
XM_006718430.2:c.977G>T	XP_006718493.1:p.Arg326Met
XM_006718431.2:c.872G>T	XP_006718494.1:p.Arg291Met
XM_006718430.4:c.977G>T	XP_006718493.1:p.Arg326Met
XM_006718431.4:c.872G>T	XP_006718494.1:p.Arg291Met
NM_144585.4:c.902G>T MANE Select	NP_653186.2:p.Arg301Met
NM_001276326.2:c.800G>T	NP_001263255.1:p.Arg267Met
NM_153378.3:c.239G>T	NP_700357.1:p.Arg80Met
NM_001276327.2:c.578G>T	NP_001263256.1:p.Arg193Met