Canonical Allele Identifier: CA381125964
Gene: SLC22A12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64598580C>G , CM000673.2:g.64598580C>G GRCh38
NC_000011.9:g.64366052C>G , CM000673.1:g.64366052C>G GRCh37
NC_000011.8:g.64122628C>G NCBI36
NG_008110.1:g.12771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377574.6:c.895C>G MANE Select ENSP00000366797.1:p.Leu299Val
ENST00000336464.7:c.793C>G ENSP00000336836.7:p.Leu265Val
ENST00000377567.6:c.571C>G ENSP00000366790.2:p.Leu191Val
ENST00000377572.5:c.571C>G ENSP00000366795.1:p.Leu191Val
ENST00000377574.5:c.895C>G ENSP00000366797.1:p.Leu299Val
ENST00000473690.5:c.232C>G ENSP00000438437.1:p.Leu78Val
NM_001276326.1:c.793C>G NP_001263255.1:p.Leu265Val
NM_001276327.1:c.571C>G NP_001263256.1:p.Leu191Val
NM_144585.3:c.895C>G NP_653186.2:p.Leu299Val
NM_153378.2:c.232C>G NP_700357.1:p.Leu78Val
XM_006718430.2:c.970C>G XP_006718493.1:p.Leu324Val
XM_006718431.2:c.865C>G XP_006718494.1:p.Leu289Val
XM_006718430.4:c.970C>G XP_006718493.1:p.Leu324Val
XM_006718431.4:c.865C>G XP_006718494.1:p.Leu289Val
NM_144585.4:c.895C>G MANE Select NP_653186.2:p.Leu299Val
NM_001276326.2:c.793C>G NP_001263255.1:p.Leu265Val
NM_153378.3:c.232C>G NP_700357.1:p.Leu78Val
NM_001276327.2:c.571C>G NP_001263256.1:p.Leu191Val