Canonical Allele Identifier: CA381119039
Community Standard Title: NM_144585.4(SLC22A12):c.408C>A (p.Asn136Lys)
Gene: SLC22A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64592784C>A , CM000673.2:g.64592784C>A GRCh38
NC_000011.9:g.64360256C>A , CM000673.1:g.64360256C>A GRCh37
NC_000011.8:g.64116832C>A NCBI36
NG_008110.1:g.6975C>A

Transcript Alleles

HGVS Amino-acid Change
NM_144585.4:c.408C>A MANE Select NP_653186.2:p.Asn136Lys
ENST00000377574.6:c.408C>A MANE Select ENSP00000366797.1:p.Asn136Lys
NM_001276326.1:c.408C>A NP_001263255.1:p.Asn136Lys
NM_001276326.2:c.408C>A NP_001263255.1:p.Asn136Lys
NM_001276327.1:c.408C>A NP_001263256.1:p.Asn136Lys
NM_001276327.2:c.408C>A NP_001263256.1:p.Asn136Lys
NM_144585.3:c.408C>A NP_653186.2:p.Asn136Lys
NM_153378.2:c.-101C>A NP_700357.1:n.-101C>A
NM_153378.3:c.-101C>A NP_700357.1:n.-101C>A
ENST00000336464.7:c.408C>A ENSP00000336836.7:p.Asn136Lys
ENST00000377567.6:c.408C>A ENSP00000366790.2:p.Asn136Lys
ENST00000377572.5:c.408C>A ENSP00000366795.1:p.Asn136Lys
ENST00000377574.5:c.408C>A ENSP00000366797.1:p.Asn136Lys
ENST00000473690.5:c.-101C>A ENSP00000438437.1:n.-101C>A
XM_006718430.2:c.408C>A XP_006718493.1:p.Asn136Lys
XM_006718430.4:c.408C>A XP_006718493.1:p.Asn136Lys
XM_006718431.2:c.303C>A XP_006718494.1:p.Asn101Lys
XM_006718431.4:c.303C>A XP_006718494.1:p.Asn101Lys