Canonical Allele Identifier: CA405142606
Gene: C19orf12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195733
ClinVar RCV Id: RCV002628903

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702791G>T , CM000681.2:g.29702791G>T GRCh38
NC_000019.9:g.30193698G>T , CM000681.1:g.30193698G>T GRCh37
NC_000019.8:g.34885538G>T NCBI36
NG_031970.1:g.17999C>A
NG_031970.2:g.17999C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.347C>A ENSP00000482097.2:p.Ala116Asp
ENST00000623113.3:c.347C>A ENSP00000485413.2:p.Ala116Asp
ENST00000323670.14:c.347C>A MANE Select ENSP00000313332.9:p.Ala116Asp
ENST00000323670.13:c.347C>A ENSP00000313332.8:p.Ala116Asp
ENST00000392275.1:n.738C>A
ENST00000392276.1:c.155C>A ENSP00000376102.1:p.Ala52Asp
ENST00000392278.2:c.380C>A ENSP00000376103.2:p.Ala127Asp
ENST00000592153.5:c.292C>A ENSP00000467117.1:p.Pro98Thr
ENST00000614091.4:c.347C>A ENSP00000482097.1:p.Ala116Asp
ENST00000623113.1:c.155C>A ENSP00000485413.1:p.Ala52Asp
NM_001031726.3:c.380C>A NP_001026896.2:p.Ala127Asp
NM_001256046.1:c.292C>A NP_001242975.1:p.Pro98Thr
NM_001256047.1:c.347C>A NP_001242976.1:p.Ala116Asp
NM_001282929.1:c.155C>A NP_001269858.1:p.Ala52Asp
NM_001282930.1:c.155C>A NP_001269859.1:p.Ala52Asp
NM_001282931.1:c.155C>A NP_001269860.1:p.Ala52Asp
NM_031448.4:c.347C>A NP_113636.2:p.Ala116Asp
XM_024451734.1:c.509C>A XP_024307502.1:p.Ala170Asp
XM_024451735.1:c.347C>A XP_024307503.1:p.Ala116Asp
XM_024451736.1:c.347C>A XP_024307504.1:p.Ala116Asp
XM_024451737.1:c.347C>A XP_024307505.1:p.Ala116Asp
XM_024451738.1:c.347C>A XP_024307506.1:p.Ala116Asp
NM_001256046.2:c.292C>A NP_001242975.1:p.Pro98Thr
NM_001282930.2:c.155C>A NP_001269859.1:p.Ala52Asp
NM_001282931.2:c.155C>A NP_001269860.1:p.Ala52Asp
NM_031448.6:c.347C>A MANE Select NP_113636.2:p.Ala116Asp
NM_001031726.4:c.347C>A NP_001026896.3:p.Ala116Asp
NM_001256046.3:c.292C>A NP_001242975.1:p.Pro98Thr
NM_001256047.2:c.347C>A NP_001242976.1:p.Ala116Asp
NM_001282930.3:c.155C>A NP_001269859.1:p.Ala52Asp
NM_001282931.3:c.155C>A NP_001269860.1:p.Ala52Asp