Canonical Allele Identifier: CA405143451
Gene: C19orf12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702951C>A , CM000681.2:g.29702951C>A GRCh38
NC_000019.9:g.30193858C>A , CM000681.1:g.30193858C>A GRCh37
NC_000019.8:g.34885698C>A NCBI36
NG_031970.1:g.17839G>T
NG_031970.2:g.17839G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.187G>T ENSP00000482097.2:p.Ala63Ser
ENST00000623113.3:c.187G>T ENSP00000485413.2:p.Ala63Ser
ENST00000323670.14:c.187G>T MANE Select ENSP00000313332.9:p.Ala63Ser
ENST00000323670.13:c.187G>T ENSP00000313332.8:p.Ala63Ser
ENST00000342680.5:c.*101G>T ENSP00000345497.5:n.*101G>T
ENST00000392275.1:n.578G>T
ENST00000392276.1:c.-6G>T ENSP00000376102.1:n.-6G>T
ENST00000392278.2:c.220G>T ENSP00000376103.2:p.Ala74Ser
ENST00000591243.1:c.187G>T ENSP00000467516.1:p.Ala63Ser
ENST00000592153.5:c.187G>T ENSP00000467117.1:p.Ala63Ser
ENST00000614091.4:c.187G>T ENSP00000482097.1:p.Ala63Ser
ENST00000623113.1:c.-6G>T ENSP00000485413.1:n.-6G>T
NM_001031726.3:c.220G>T NP_001026896.2:p.Ala74Ser
NM_001256046.1:c.187G>T NP_001242975.1:p.Ala63Ser
NM_001256047.1:c.187G>T NP_001242976.1:p.Ala63Ser
NM_001282929.1:c.-6G>T NP_001269858.1:n.-6G>T
NM_001282930.1:c.-6G>T NP_001269859.1:n.-6G>T
NM_001282931.1:c.-6G>T NP_001269860.1:n.-6G>T
NM_031448.4:c.187G>T NP_113636.2:p.Ala63Ser
XM_024451734.1:c.349G>T XP_024307502.1:p.Ala117Ser
XM_024451735.1:c.187G>T XP_024307503.1:p.Ala63Ser
XM_024451736.1:c.187G>T XP_024307504.1:p.Ala63Ser
XM_024451737.1:c.187G>T XP_024307505.1:p.Ala63Ser
XM_024451738.1:c.187G>T XP_024307506.1:p.Ala63Ser
NM_001256046.2:c.187G>T NP_001242975.1:p.Ala63Ser
NM_001282930.2:c.-6G>T NP_001269859.1:n.-6G>T
NM_001282931.2:c.-6G>T NP_001269860.1:n.-6G>T
NM_031448.6:c.187G>T MANE Select NP_113636.2:p.Ala63Ser
NM_001031726.4:c.187G>T NP_001026896.3:p.Ala63Ser
NM_001256046.3:c.187G>T NP_001242975.1:p.Ala63Ser
NM_001256047.2:c.187G>T NP_001242976.1:p.Ala63Ser
NM_001282930.3:c.-6G>T NP_001269859.1:n.-6G>T
NM_001282931.3:c.-6G>T NP_001269860.1:n.-6G>T