Canonical Allele Identifier: CA506986997
Gene: C19orf12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.30193730C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702823C>G , CM000681.2:g.29702823C>G GRCh38
NC_000019.9:g.30193730C>G , CM000681.1:g.30193730C>G GRCh37
NC_000019.8:g.34885570C>G NCBI36
NG_031970.1:g.17967G>C
NG_031970.2:g.17967G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614091.5:c.315G>C ENSP00000482097.2:p.Val105=
ENST00000623113.3:c.315G>C ENSP00000485413.2:p.Val105=
ENST00000323670.14:c.315G>C MANE Select ENSP00000313332.9:p.Val105=
ENST00000323670.13:c.315G>C ENSP00000313332.8:p.Val105=
ENST00000392275.1:n.706G>C
ENST00000392276.1:c.123G>C ENSP00000376102.1:p.Val41=
ENST00000392278.2:c.348G>C ENSP00000376103.2:p.Val116=
ENST00000591243.1:c.315G>C ENSP00000467516.1:p.Val105=
ENST00000592153.5:c.290+25G>C ENSP00000467117.1:n.290+25G>C
ENST00000614091.4:c.315G>C ENSP00000482097.1:p.Val105=
ENST00000623113.1:c.123G>C ENSP00000485413.1:p.Val41=
NM_001031726.3:c.348G>C NP_001026896.2:p.Val116=
NM_001256046.1:c.290+25G>C NP_001242975.1:n.290+25G>C
NM_001256047.1:c.315G>C NP_001242976.1:p.Val105=
NM_001282929.1:c.123G>C NP_001269858.1:p.Val41=
NM_001282930.1:c.123G>C NP_001269859.1:p.Val41=
NM_001282931.1:c.123G>C NP_001269860.1:p.Val41=
NM_031448.4:c.315G>C NP_113636.2:p.Val105=
XM_024451734.1:c.477G>C XP_024307502.1:p.Val159=
XM_024451735.1:c.315G>C XP_024307503.1:p.Val105=
XM_024451736.1:c.315G>C XP_024307504.1:p.Val105=
XM_024451737.1:c.315G>C XP_024307505.1:p.Val105=
XM_024451738.1:c.315G>C XP_024307506.1:p.Val105=
NM_001256046.2:c.290+25G>C NP_001242975.1:n.290+25G>C
NM_001282930.2:c.123G>C NP_001269859.1:p.Val41=
NM_001282931.2:c.123G>C NP_001269860.1:p.Val41=
NM_031448.6:c.315G>C MANE Select NP_113636.2:p.Val105=
NM_001031726.4:c.315G>C NP_001026896.3:p.Val105=
NM_001256046.3:c.290+25G>C NP_001242975.1:n.290+25G>C
NM_001256047.2:c.315G>C NP_001242976.1:p.Val105=
NM_001282930.3:c.123G>C NP_001269859.1:p.Val41=
NM_001282931.3:c.123G>C NP_001269860.1:p.Val41=