Canonical Allele Identifier: CA381125495

Gene: SLC22A12

Linked Data

• gnomAD v4: 11-64598529-T-C
• MyVariant Identifiers: chr11:g.64366001T>C (hg19) ; chr11:g.64598529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598529T>C , CM000673.2:g.64598529T>C	GRCh38
NC_000011.9:g.64366001T>C , CM000673.1:g.64366001T>C	GRCh37
NC_000011.8:g.64122577T>C	NCBI36
NG_008110.1:g.12720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.844T>C MANE Select	ENSP00000366797.1:p.Ser282Pro
ENST00000336464.7:c.742T>C	ENSP00000336836.7:p.Ser248Pro
ENST00000377567.6:c.520T>C	ENSP00000366790.2:p.Ser174Pro
ENST00000377572.5:c.520T>C	ENSP00000366795.1:p.Ser174Pro
ENST00000377574.5:c.844T>C	ENSP00000366797.1:p.Ser282Pro
ENST00000473690.5:c.181T>C	ENSP00000438437.1:p.Ser61Pro
NM_001276326.1:c.742T>C	NP_001263255.1:p.Ser248Pro
NM_001276327.1:c.520T>C	NP_001263256.1:p.Ser174Pro
NM_144585.3:c.844T>C	NP_653186.2:p.Ser282Pro
NM_153378.2:c.181T>C	NP_700357.1:p.Ser61Pro
XM_006718430.2:c.919T>C	XP_006718493.1:p.Ser307Pro
XM_006718431.2:c.814T>C	XP_006718494.1:p.Ser272Pro
XM_006718430.4:c.919T>C	XP_006718493.1:p.Ser307Pro
XM_006718431.4:c.814T>C	XP_006718494.1:p.Ser272Pro
NM_144585.4:c.844T>C MANE Select	NP_653186.2:p.Ser282Pro
NM_001276326.2:c.742T>C	NP_001263255.1:p.Ser248Pro
NM_153378.3:c.181T>C	NP_700357.1:p.Ser61Pro
NM_001276327.2:c.520T>C	NP_001263256.1:p.Ser174Pro