Canonical Allele Identifier: CA223872452
Gene: SLC22A12 HGNC NCBI

Linked Data

dbSNP Id: rs7932775

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000377574.6:c.1309T>G MANE Select ENSP00000366797.1:p.Leu437Val
ENST00000336464.7:c.1207T>G ENSP00000336836.7:p.Leu403Val
ENST00000377567.6:c.985T>G ENSP00000366790.2:p.Leu329Val
ENST00000377572.5:c.985T>G ENSP00000366795.1:p.Leu329Val
ENST00000377574.5:c.1309T>G ENSP00000366797.1:p.Leu437Val
ENST00000473690.5:c.646T>G ENSP00000438437.1:p.Leu216Val
NM_001276326.1:c.1207T>G NP_001263255.1:p.Leu403Val
NM_001276327.1:c.985T>G NP_001263256.1:p.Leu329Val
NM_144585.3:c.1309T>G NP_653186.2:p.Leu437Val
NM_153378.2:c.646T>G NP_700357.1:p.Leu216Val
XM_006718430.2:c.1384T>G XP_006718493.1:p.Leu462Val
XM_006718431.2:c.1279T>G XP_006718494.1:p.Leu427Val
XM_006718430.4:c.1384T>G XP_006718493.1:p.Leu462Val
XM_006718431.4:c.1279T>G XP_006718494.1:p.Leu427Val
NM_144585.4:c.1309T>G MANE Select NP_653186.2:p.Leu437Val
NM_001276326.2:c.1207T>G NP_001263255.1:p.Leu403Val
NM_153378.3:c.646T>G NP_700357.1:p.Leu216Val
NM_001276327.2:c.985T>G NP_001263256.1:p.Leu329Val