Canonical Allele Identifier: CA9351912
Gene: C19orf12 HGNC NCBI

Linked Data

ClinVar Variation Id: 225875
ClinVar RCV Id: RCV000211114
dbSNP Id: rs201987973

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29702923G>A , CM000681.2:g.29702923G>A GRCh38
NC_000019.9:g.30193830G>A , CM000681.1:g.30193830G>A GRCh37
NC_000019.8:g.34885670G>A NCBI36
NG_031970.1:g.17867C>T
NG_031970.2:g.17867C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614091.5:c.215C>T ENSP00000482097.2:p.Pro72Leu
ENST00000623113.3:c.215C>T ENSP00000485413.2:p.Pro72Leu
ENST00000323670.14:c.215C>T MANE Select ENSP00000313332.9:p.Pro72Leu
ENST00000323670.13:c.215C>T ENSP00000313332.8:p.Pro72Leu
ENST00000342680.5:c.*129C>T ENSP00000345497.5:n.*129C>T
ENST00000392275.1:n.606C>T
ENST00000392276.1:c.23C>T ENSP00000376102.1:p.Pro8Leu
ENST00000392278.2:c.248C>T ENSP00000376103.2:p.Pro83Leu
ENST00000591243.1:c.215C>T ENSP00000467516.1:p.Pro72Leu
ENST00000592153.5:c.215C>T ENSP00000467117.1:p.Pro72Leu
ENST00000614091.4:c.215C>T ENSP00000482097.1:p.Pro72Leu
ENST00000623113.1:c.23C>T ENSP00000485413.1:p.Pro8Leu
NM_001031726.3:c.248C>T NP_001026896.2:p.Pro83Leu
NM_001256046.1:c.215C>T NP_001242975.1:p.Pro72Leu
NM_001256047.1:c.215C>T NP_001242976.1:p.Pro72Leu
NM_001282929.1:c.23C>T NP_001269858.1:p.Pro8Leu
NM_001282930.1:c.23C>T NP_001269859.1:p.Pro8Leu
NM_001282931.1:c.23C>T NP_001269860.1:p.Pro8Leu
NM_031448.4:c.215C>T NP_113636.2:p.Pro72Leu
XM_024451734.1:c.377C>T XP_024307502.1:p.Pro126Leu
XM_024451735.1:c.215C>T XP_024307503.1:p.Pro72Leu
XM_024451736.1:c.215C>T XP_024307504.1:p.Pro72Leu
XM_024451737.1:c.215C>T XP_024307505.1:p.Pro72Leu
XM_024451738.1:c.215C>T XP_024307506.1:p.Pro72Leu
NM_001256046.2:c.215C>T NP_001242975.1:p.Pro72Leu
NM_001282930.2:c.23C>T NP_001269859.1:p.Pro8Leu
NM_001282931.2:c.23C>T NP_001269860.1:p.Pro8Leu
NM_031448.6:c.215C>T MANE Select NP_113636.2:p.Pro72Leu
NM_001031726.4:c.215C>T NP_001026896.3:p.Pro72Leu
NM_001256046.3:c.215C>T NP_001242975.1:p.Pro72Leu
NM_001256047.2:c.215C>T NP_001242976.1:p.Pro72Leu
NM_001282930.3:c.23C>T NP_001269859.1:p.Pro8Leu
NM_001282931.3:c.23C>T NP_001269860.1:p.Pro8Leu