Canonical Allele Identifier: CA10642563

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 328738
• ClinVar RCV Id: RCV000286596
• dbSNP Id: rs886054326
• gnomAD v2: 19-30205912-A-G
• gnomAD v3: 19-29715005-A-G
• gnomAD v4: 19-29715005-A-G
• MyVariant Identifiers: chr19:g.30205912A>G (hg19) ; chr19:g.29715005A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29715005A>G , CM000681.2:g.29715005A>G	GRCh38
NC_000019.9:g.30205912A>G , CM000681.1:g.30205912A>G	GRCh37
NC_000019.8:g.34897752A>G	NCBI36
NG_031970.1:g.5785T>C
NG_031970.2:g.5785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.-11+558T>C	ENSP00000482097.2:n.-11+558T>C
ENST00000623113.3:c.-109T>C	ENSP00000485413.2:n.-109T>C
ENST00000323670.14:c.-11+120T>C MANE Select	ENSP00000313332.9:n.-11+120T>C
ENST00000323670.13:c.-11+120T>C	ENSP00000313332.8:n.-11+120T>C
ENST00000342680.5:c.-11+120T>C	ENSP00000345497.5:n.-11+120T>C
ENST00000392275.1:n.453T>C
ENST00000392276.1:c.-33+120T>C	ENSP00000376102.1:n.-33+120T>C
ENST00000392278.2:c.-76T>C	ENSP00000376103.2:n.-76T>C
ENST00000592153.5:c.-11+120T>C	ENSP00000467117.1:n.-11+120T>C
ENST00000614091.4:c.-11+558T>C	ENSP00000482097.1:n.-11+558T>C
ENST00000623113.1:c.-131T>C	ENSP00000485413.1:n.-131T>C
NM_001031726.3:c.-76T>C	NP_001026896.2:n.-76T>C
NM_001256046.1:c.-11+120T>C	NP_001242975.1:n.-11+120T>C
NM_001256047.1:c.-11+558T>C	NP_001242976.1:n.-11+558T>C
NM_001282929.1:c.-131T>C	NP_001269858.1:n.-131T>C
NM_001282930.1:c.-33+120T>C	NP_001269859.1:n.-33+120T>C
NM_001282931.1:c.-324+120T>C	NP_001269860.1:n.-324+120T>C
NM_031448.4:c.-11+120T>C	NP_113636.2:n.-11+120T>C
XM_024451736.1:c.-685+120T>C	XP_024307504.1:n.-685+120T>C
XM_024451737.1:c.-418+120T>C	XP_024307505.1:n.-418+120T>C
XM_024451738.1:c.-115+120T>C	XP_024307506.1:n.-115+120T>C
NM_001256046.2:c.-11+120T>C	NP_001242975.1:n.-11+120T>C
NM_001282930.2:c.-33+120T>C	NP_001269859.1:n.-33+120T>C
NM_001282931.2:c.-324+120T>C	NP_001269860.1:n.-324+120T>C
NM_031448.6:c.-11+120T>C MANE Select	NP_113636.2:n.-11+120T>C
NM_001031726.4:c.-109T>C	NP_001026896.3:n.-109T>C
NM_001256046.3:c.-11+120T>C	NP_001242975.1:n.-11+120T>C
NM_001256047.2:c.-11+558T>C	NP_001242976.1:n.-11+558T>C
NM_001282930.3:c.-33+120T>C	NP_001269859.1:n.-33+120T>C
NM_001282931.3:c.-324+120T>C	NP_001269860.1:n.-324+120T>C