Canonical Allele Identifier: CA381125646

Gene: SLC22A12

Linked Data

• dbSNP Id: rs1216586833
• gnomAD v2: 11-64366014-T-C
• MyVariant Identifiers: chr11:g.64366014T>C (hg19) ; chr11:g.64598542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64598542T>C , CM000673.2:g.64598542T>C	GRCh38
NC_000011.9:g.64366014T>C , CM000673.1:g.64366014T>C	GRCh37
NC_000011.8:g.64122590T>C	NCBI36
NG_008110.1:g.12733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377574.6:c.857T>C MANE Select	ENSP00000366797.1:p.Leu286Pro
ENST00000336464.7:c.755T>C	ENSP00000336836.7:p.Leu252Pro
ENST00000377567.6:c.533T>C	ENSP00000366790.2:p.Leu178Pro
ENST00000377572.5:c.533T>C	ENSP00000366795.1:p.Leu178Pro
ENST00000377574.5:c.857T>C	ENSP00000366797.1:p.Leu286Pro
ENST00000473690.5:c.194T>C	ENSP00000438437.1:p.Leu65Pro
NM_001276326.1:c.755T>C	NP_001263255.1:p.Leu252Pro
NM_001276327.1:c.533T>C	NP_001263256.1:p.Leu178Pro
NM_144585.3:c.857T>C	NP_653186.2:p.Leu286Pro
NM_153378.2:c.194T>C	NP_700357.1:p.Leu65Pro
XM_006718430.2:c.932T>C	XP_006718493.1:p.Leu311Pro
XM_006718431.2:c.827T>C	XP_006718494.1:p.Leu276Pro
XM_006718430.4:c.932T>C	XP_006718493.1:p.Leu311Pro
XM_006718431.4:c.827T>C	XP_006718494.1:p.Leu276Pro
NM_144585.4:c.857T>C MANE Select	NP_653186.2:p.Leu286Pro
NM_001276326.2:c.755T>C	NP_001263255.1:p.Leu252Pro
NM_153378.3:c.194T>C	NP_700357.1:p.Leu65Pro
NM_001276327.2:c.533T>C	NP_001263256.1:p.Leu178Pro