Canonical Allele Identifier: CA9351871

Gene: C19orf12

Linked Data

• dbSNP Id: rs757445094
• ExAC: 19:30193668 A / AC
• gnomAD v2: 19-30193668-A-AC
• gnomAD v4: 19-29702761-A-AC
• MyVariant Identifiers: chr19:g.30193668_30193669insC (hg19) ; chr19:g.29702761_29702762insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702763dup , CM000681.2:g.29702763dup	GRCh38
NC_000019.9:g.30193670dup , CM000681.1:g.30193670dup	GRCh37
NC_000019.8:g.34885510dup	NCBI36
NG_031970.1:g.18028dup
NG_031970.2:g.18028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623113.3:c.376dup	ENSP00000485413.2:p.Val126GlyfsTer15
ENST00000323670.14:c.376dup MANE Select	ENSP00000313332.9:p.Val126GlyfsTer15
ENST00000323670.13:c.376dup	ENSP00000313332.8:p.Val126GlyfsTer15
ENST00000392275.1:n.767dup
ENST00000392276.1:c.184dup	ENSP00000376102.1:p.Val62GlyfsTer15
ENST00000392278.2:c.409dup	ENSP00000376103.2:p.Val137GlyfsTer15
ENST00000592153.5:c.321dup	ENSP00000467117.1:p.Ter108ValextTer17
ENST00000614091.4:c.376dup	ENSP00000482097.1:p.Val126GlyfsTer15
ENST00000623113.1:c.184dup	ENSP00000485413.1:p.Val62GlyfsTer15
NM_001031726.3:c.409dup	NP_001026896.2:p.Val137GlyfsTer15
NM_001256046.1:c.321dup	NP_001242975.1:p.Ter108ValextTer17
NM_001256047.1:c.376dup	NP_001242976.1:p.Val126GlyfsTer15
NM_001282929.1:c.184dup	NP_001269858.1:p.Val62GlyfsTer15
NM_001282930.1:c.184dup	NP_001269859.1:p.Val62GlyfsTer15
NM_001282931.1:c.184dup	NP_001269860.1:p.Val62GlyfsTer15
NM_031448.4:c.376dup	NP_113636.2:p.Val126GlyfsTer15
XM_024451734.1:c.538dup	XP_024307502.1:p.Val180GlyfsTer15
XM_024451735.1:c.376dup	XP_024307503.1:p.Val126GlyfsTer15
XM_024451736.1:c.376dup	XP_024307504.1:p.Val126GlyfsTer15
XM_024451737.1:c.376dup	XP_024307505.1:p.Val126GlyfsTer15
XM_024451738.1:c.376dup	XP_024307506.1:p.Val126GlyfsTer15
NM_001256046.2:c.321dup	NP_001242975.1:p.Ter108ValextTer17
NM_001282930.2:c.184dup	NP_001269859.1:p.Val62GlyfsTer15
NM_001282931.2:c.184dup	NP_001269860.1:p.Val62GlyfsTer15
NM_031448.6:c.376dup MANE Select	NP_113636.2:p.Val126GlyfsTer15
NM_001031726.4:c.376dup	NP_001026896.3:p.Val126GlyfsTer15
NM_001256046.3:c.321dup	NP_001242975.1:p.Ter108ValextTer17
NM_001256047.2:c.376dup	NP_001242976.1:p.Val126GlyfsTer15
NM_001282930.3:c.184dup	NP_001269859.1:p.Val62GlyfsTer15
NM_001282931.3:c.184dup	NP_001269860.1:p.Val62GlyfsTer15