Canonical Allele Identifier: CA6077403

Gene: SLC22A12

Linked Data

• ClinVar Variation Id: 305244
• ClinVar RCV Id: RCV001517190
• dbSNP Id: rs7932775
• ExAC: 11:64367862 T / C
• gnomAD v2: 11-64367862-T-C
• gnomAD v3: 11-64600390-T-C
• gnomAD v4: 11-64600390-T-C
• MyVariant Identifiers: chr11:g.64367862T>C (hg19) ; chr11:g.64600390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64600390T>C , CM000673.2:g.64600390T>C	GRCh38
NC_000011.9:g.64367862T>C , CM000673.1:g.64367862T>C	GRCh37
NC_000011.8:g.64124438T>C	NCBI36
NG_008110.1:g.14581T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377574.6:c.1309T>C MANE Select	ENSP00000366797.1:p.Leu437=
ENST00000336464.7:c.1207T>C	ENSP00000336836.7:p.Leu403=
ENST00000377567.6:c.985T>C	ENSP00000366790.2:p.Leu329=
ENST00000377572.5:c.985T>C	ENSP00000366795.1:p.Leu329=
ENST00000377574.5:c.1309T>C	ENSP00000366797.1:p.Leu437=
ENST00000473690.5:c.646T>C	ENSP00000438437.1:p.Leu216=
NM_001276326.1:c.1207T>C	NP_001263255.1:p.Leu403=
NM_001276327.1:c.985T>C	NP_001263256.1:p.Leu329=
NM_144585.3:c.1309T>C	NP_653186.2:p.Leu437=
NM_153378.2:c.646T>C	NP_700357.1:p.Leu216=
XM_006718430.2:c.1384T>C	XP_006718493.1:p.Leu462=
XM_006718431.2:c.1279T>C	XP_006718494.1:p.Leu427=
XM_006718430.4:c.1384T>C	XP_006718493.1:p.Leu462=
XM_006718431.4:c.1279T>C	XP_006718494.1:p.Leu427=
NM_144585.4:c.1309T>C MANE Select	NP_653186.2:p.Leu437=
NM_001276326.2:c.1207T>C	NP_001263255.1:p.Leu403=
NM_153378.3:c.646T>C	NP_700357.1:p.Leu216=
NM_001276327.2:c.985T>C	NP_001263256.1:p.Leu329=