Canonical Allele Identifier: CA381125942

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598577-G-T
• MyVariant Identifiers: chr11:g.64366049G>T (hg19) ; chr11:g.64598577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598577G>T , CM000673.2:g.64598577G>T	GRCh38
NC_000011.9:g.64366049G>T , CM000673.1:g.64366049G>T	GRCh37
NC_000011.8:g.64122625G>T	NCBI36
NG_008110.1:g.12768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.892G>T MANE Select	ENSP00000366797.1:p.Glu298Ter
ENST00000336464.7:c.790G>T	ENSP00000336836.7:p.Glu264Ter
ENST00000377567.6:c.568G>T	ENSP00000366790.2:p.Glu190Ter
ENST00000377572.5:c.568G>T	ENSP00000366795.1:p.Glu190Ter
ENST00000377574.5:c.892G>T	ENSP00000366797.1:p.Glu298Ter
ENST00000473690.5:c.229G>T	ENSP00000438437.1:p.Glu77Ter
NM_001276326.1:c.790G>T	NP_001263255.1:p.Glu264Ter
NM_001276327.1:c.568G>T	NP_001263256.1:p.Glu190Ter
NM_144585.3:c.892G>T	NP_653186.2:p.Glu298Ter
NM_153378.2:c.229G>T	NP_700357.1:p.Glu77Ter
XM_006718430.2:c.967G>T	XP_006718493.1:p.Glu323Ter
XM_006718431.2:c.862G>T	XP_006718494.1:p.Glu288Ter
XM_006718430.4:c.967G>T	XP_006718493.1:p.Glu323Ter
XM_006718431.4:c.862G>T	XP_006718494.1:p.Glu288Ter
NM_144585.4:c.892G>T MANE Select	NP_653186.2:p.Glu298Ter
NM_001276326.2:c.790G>T	NP_001263255.1:p.Glu264Ter
NM_153378.3:c.229G>T	NP_700357.1:p.Glu77Ter
NM_001276327.2:c.568G>T	NP_001263256.1:p.Glu190Ter