Canonical Allele Identifier: CA306789004
Gene: C19orf12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2988212
ClinVar RCV Id: RCV003844395
dbSNP Id: rs888211462

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29708407T>C , CM000681.2:g.29708407T>C GRCh38
NC_000019.9:g.30199314T>C , CM000681.1:g.30199314T>C GRCh37
NC_000019.8:g.34891154T>C NCBI36
NG_031970.1:g.12383A>G
NG_031970.2:g.12383A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.7A>G ENSP00000482097.2:p.Ile3Val
ENST00000623113.3:c.7A>G ENSP00000485413.2:p.Ile3Val
ENST00000323670.14:c.7A>G MANE Select ENSP00000313332.9:p.Ile3Val
ENST00000323670.13:c.7A>G ENSP00000313332.8:p.Ile3Val
ENST00000342680.5:c.7A>G ENSP00000345497.5:p.Ile3Val
ENST00000392275.1:n.552-5430A>G
ENST00000392276.1:c.-32-5430A>G ENSP00000376102.1:n.-32-5430A>G
ENST00000392278.2:c.40A>G ENSP00000376103.2:p.Ile14Val
ENST00000591243.1:c.7A>G ENSP00000467516.1:p.Ile3Val
ENST00000592153.5:c.7A>G ENSP00000467117.1:p.Ile3Val
ENST00000614091.4:c.7A>G ENSP00000482097.1:p.Ile3Val
ENST00000623113.1:c.-32-5430A>G ENSP00000485413.1:n.-32-5430A>G
NM_001031726.3:c.40A>G NP_001026896.2:p.Ile14Val
NM_001256046.1:c.7A>G NP_001242975.1:p.Ile3Val
NM_001256047.1:c.7A>G NP_001242976.1:p.Ile3Val
NM_001282929.1:c.-32-5430A>G NP_001269858.1:n.-32-5430A>G
NM_001282930.1:c.-32-5430A>G NP_001269859.1:n.-32-5430A>G
NM_001282931.1:c.-307A>G NP_001269860.1:n.-307A>G
NM_031448.4:c.7A>G NP_113636.2:p.Ile3Val
XM_024451734.1:c.169A>G XP_024307502.1:p.Ile57Val
XM_024451735.1:c.7A>G XP_024307503.1:p.Ile3Val
XM_024451736.1:c.7A>G XP_024307504.1:p.Ile3Val
XM_024451737.1:c.7A>G XP_024307505.1:p.Ile3Val
XM_024451738.1:c.7A>G XP_024307506.1:p.Ile3Val
NM_001256046.2:c.7A>G NP_001242975.1:p.Ile3Val
NM_001282930.2:c.-32-5430A>G NP_001269859.1:n.-32-5430A>G
NM_001282931.2:c.-307A>G NP_001269860.1:n.-307A>G
NM_031448.6:c.7A>G MANE Select NP_113636.2:p.Ile3Val
NM_001031726.4:c.7A>G NP_001026896.3:p.Ile3Val
NM_001256046.3:c.7A>G NP_001242975.1:p.Ile3Val
NM_001256047.2:c.7A>G NP_001242976.1:p.Ile3Val
NM_001282930.3:c.-32-5430A>G NP_001269859.1:n.-32-5430A>G
NM_001282931.3:c.-307A>G NP_001269860.1:n.-307A>G