Canonical Allele Identifier: CA16608194
Gene: C19orf12 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.29714947G>A
GRCh37 chr19:g.30205854G>A
gnomAD v2:
19:30205854 G / A
gnomAD v3:
19:29714947 G / A
gnomAD v4:
chr19-29714947-G-A
Joint Max Group AF 0.00011268 (NFE)
Genomes Max Group AF 0.00001983 (NFE)
Exomes Max Group AF 0.00012557 (NFE)
ClinVar RCV:
RCV000430320
RCV001128370
ClinVar Variation:
387761
dbSNP:
948285503
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.29714947G>A , CM000681.2:g.29714947G>A GRCh38
NC_000019.9:g.30205854G>A , CM000681.1:g.30205854G>A GRCh37
NC_000019.8:g.34897694G>A NCBI36
NG_031970.1:g.5843C>T
NG_031970.2:g.5843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614091.5:c.-11+616C>T ENSP00000482097.2:n.-11+616C>T
ENST00000623113.3:c.-51C>T ENSP00000485413.2:n.-51C>T
ENST00000323670.14:c.-11+178C>T MANE Select ENSP00000313332.9:n.-11+178C>T
ENST00000323670.13:c.-11+178C>T ENSP00000313332.8:n.-11+178C>T
ENST00000342680.5:c.-11+178C>T ENSP00000345497.5:n.-11+178C>T
ENST00000392275.1:n.511C>T
ENST00000392276.1:c.-33+178C>T ENSP00000376102.1:n.-33+178C>T
ENST00000392278.2:c.-18C>T ENSP00000376103.2:n.-18C>T
ENST00000592153.5:c.-11+178C>T ENSP00000467117.1:n.-11+178C>T
ENST00000614091.4:c.-11+616C>T ENSP00000482097.1:n.-11+616C>T
ENST00000623113.1:c.-73C>T ENSP00000485413.1:n.-73C>T
NM_001031726.3:c.-18C>T NP_001026896.2:n.-18C>T
NM_001256046.1:c.-11+178C>T NP_001242975.1:n.-11+178C>T
NM_001256047.1:c.-11+616C>T NP_001242976.1:n.-11+616C>T
NM_001282929.1:c.-73C>T NP_001269858.1:n.-73C>T
NM_001282930.1:c.-33+178C>T NP_001269859.1:n.-33+178C>T
NM_001282931.1:c.-324+178C>T NP_001269860.1:n.-324+178C>T
NM_031448.4:c.-11+178C>T NP_113636.2:n.-11+178C>T
XM_024451736.1:c.-685+178C>T XP_024307504.1:n.-685+178C>T
XM_024451737.1:c.-418+178C>T XP_024307505.1:n.-418+178C>T
XM_024451738.1:c.-115+178C>T XP_024307506.1:n.-115+178C>T
NM_001256046.2:c.-11+178C>T NP_001242975.1:n.-11+178C>T
NM_001282930.2:c.-33+178C>T NP_001269859.1:n.-33+178C>T
NM_001282931.2:c.-324+178C>T NP_001269860.1:n.-324+178C>T
NM_031448.6:c.-11+178C>T MANE Select NP_113636.2:n.-11+178C>T
NM_001031726.4:c.-51C>T NP_001026896.3:n.-51C>T
NM_001256046.3:c.-11+178C>T NP_001242975.1:n.-11+178C>T
NM_001256047.2:c.-11+616C>T NP_001242976.1:n.-11+616C>T
NM_001282930.3:c.-33+178C>T NP_001269859.1:n.-33+178C>T
NM_001282931.3:c.-324+178C>T NP_001269860.1:n.-324+178C>T
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