Canonical Allele Identifier: CA10648482

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 328709
• ClinVar RCV Id: RCV000308402
• dbSNP Id: rs886054318
• gnomAD v2: 19-30192582-T-C
• gnomAD v3: 19-29701675-T-C
• gnomAD v4: 19-29701675-T-C
• MyVariant Identifiers: chr19:g.30192582T>C (hg19) ; chr19:g.29701675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29701675T>C , CM000681.2:g.29701675T>C	GRCh38
NC_000019.9:g.30192582T>C , CM000681.1:g.30192582T>C	GRCh37
NC_000019.8:g.34884422T>C	NCBI36
NG_031970.1:g.19115A>G
NG_031970.2:g.19115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623113.3:c.*1037A>G	ENSP00000485413.2:n.*1037A>G
ENST00000323670.14:c.*1037A>G MANE Select	ENSP00000313332.9:n.*1037A>G
ENST00000323670.13:c.*1037A>G	ENSP00000313332.8:n.*1037A>G
ENST00000392276.1:c.*1037A>G	ENSP00000376102.1:n.*1037A>G
ENST00000614091.4:c.*1037A>G	ENSP00000482097.1:n.*1037A>G
ENST00000623113.1:c.*1037A>G	ENSP00000485413.1:n.*1037A>G
NM_001031726.3:c.*1037A>G	NP_001026896.2:n.*1037A>G
NM_001256046.1:c.*1084A>G	NP_001242975.1:n.*1084A>G
NM_001256047.1:c.*1037A>G	NP_001242976.1:n.*1037A>G
NM_001282929.1:c.*1037A>G	NP_001269858.1:n.*1037A>G
NM_001282930.1:c.*1037A>G	NP_001269859.1:n.*1037A>G
NM_001282931.1:c.*1037A>G	NP_001269860.1:n.*1037A>G
NM_031448.4:c.*1037A>G	NP_113636.2:n.*1037A>G
XM_024451734.1:c.*1037A>G	XP_024307502.1:n.*1037A>G
XM_024451735.1:c.*1037A>G	XP_024307503.1:n.*1037A>G
XM_024451736.1:c.*1037A>G	XP_024307504.1:n.*1037A>G
XM_024451737.1:c.*1037A>G	XP_024307505.1:n.*1037A>G
XM_024451738.1:c.*1037A>G	XP_024307506.1:n.*1037A>G
NM_001256046.2:c.*1084A>G	NP_001242975.1:n.*1084A>G
NM_001282930.2:c.*1037A>G	NP_001269859.1:n.*1037A>G
NM_001282931.2:c.*1037A>G	NP_001269860.1:n.*1037A>G
NM_031448.6:c.*1037A>G MANE Select	NP_113636.2:n.*1037A>G
NM_001031726.4:c.*1037A>G	NP_001026896.3:n.*1037A>G
NM_001256046.3:c.*1084A>G	NP_001242975.1:n.*1084A>G
NM_001256047.2:c.*1037A>G	NP_001242976.1:n.*1037A>G
NM_001282930.3:c.*1037A>G	NP_001269859.1:n.*1037A>G
NM_001282931.3:c.*1037A>G	NP_001269860.1:n.*1037A>G