Canonical Allele Identifier: CA405142399
Gene: C19orf12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702761A>T , CM000681.2:g.29702761A>T GRCh38
NC_000019.9:g.30193668A>T , CM000681.1:g.30193668A>T GRCh37
NC_000019.8:g.34885508A>T NCBI36
NG_031970.1:g.18029T>A
NG_031970.2:g.18029T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623113.3:c.377T>A ENSP00000485413.2:p.Val126Glu
ENST00000323670.14:c.377T>A MANE Select ENSP00000313332.9:p.Val126Glu
ENST00000323670.13:c.377T>A ENSP00000313332.8:p.Val126Glu
ENST00000392275.1:n.768T>A
ENST00000392276.1:c.185T>A ENSP00000376102.1:p.Val62Glu
ENST00000392278.2:c.410T>A ENSP00000376103.2:p.Val137Glu
ENST00000592153.5:c.322T>A ENSP00000467117.1:p.Ter108Arg
ENST00000614091.4:c.377T>A ENSP00000482097.1:p.Val126Glu
ENST00000623113.1:c.185T>A ENSP00000485413.1:p.Val62Glu
NM_001031726.3:c.410T>A NP_001026896.2:p.Val137Glu
NM_001256046.1:c.322T>A NP_001242975.1:p.Ter108Arg
NM_001256047.1:c.377T>A NP_001242976.1:p.Val126Glu
NM_001282929.1:c.185T>A NP_001269858.1:p.Val62Glu
NM_001282930.1:c.185T>A NP_001269859.1:p.Val62Glu
NM_001282931.1:c.185T>A NP_001269860.1:p.Val62Glu
NM_031448.4:c.377T>A NP_113636.2:p.Val126Glu
XM_024451734.1:c.539T>A XP_024307502.1:p.Val180Glu
XM_024451735.1:c.377T>A XP_024307503.1:p.Val126Glu
XM_024451736.1:c.377T>A XP_024307504.1:p.Val126Glu
XM_024451737.1:c.377T>A XP_024307505.1:p.Val126Glu
XM_024451738.1:c.377T>A XP_024307506.1:p.Val126Glu
NM_001256046.2:c.322T>A NP_001242975.1:p.Ter108Arg
NM_001282930.2:c.185T>A NP_001269859.1:p.Val62Glu
NM_001282931.2:c.185T>A NP_001269860.1:p.Val62Glu
NM_031448.6:c.377T>A MANE Select NP_113636.2:p.Val126Glu
NM_001031726.4:c.377T>A NP_001026896.3:p.Val126Glu
NM_001256046.3:c.322T>A NP_001242975.1:p.Ter108Arg
NM_001256047.2:c.377T>A NP_001242976.1:p.Val126Glu
NM_001282930.3:c.185T>A NP_001269859.1:p.Val62Glu
NM_001282931.3:c.185T>A NP_001269860.1:p.Val62Glu