Canonical Allele Identifier: CA405142521

Gene: C19orf12

Linked Data

• dbSNP Id: rs1345006719
• gnomAD v2: 19-30193687-G-C
• gnomAD v3: 19-29702780-G-C
• gnomAD v4: 19-29702780-G-C
• MyVariant Identifiers: chr19:g.30193687G>C (hg19) ; chr19:g.29702780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702780G>C , CM000681.2:g.29702780G>C	GRCh38
NC_000019.9:g.30193687G>C , CM000681.1:g.30193687G>C	GRCh37
NC_000019.8:g.34885527G>C	NCBI36
NG_031970.1:g.18010C>G
NG_031970.2:g.18010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623113.3:c.358C>G	ENSP00000485413.2:p.Gln120Glu
ENST00000323670.14:c.358C>G MANE Select	ENSP00000313332.9:p.Gln120Glu
ENST00000323670.13:c.358C>G	ENSP00000313332.8:p.Gln120Glu
ENST00000392275.1:n.749C>G
ENST00000392276.1:c.166C>G	ENSP00000376102.1:p.Gln56Glu
ENST00000392278.2:c.391C>G	ENSP00000376103.2:p.Gln131Glu
ENST00000592153.5:c.303C>G	ENSP00000467117.1:p.Ser101Arg
ENST00000614091.4:c.358C>G	ENSP00000482097.1:p.Gln120Glu
ENST00000623113.1:c.166C>G	ENSP00000485413.1:p.Gln56Glu
NM_001031726.3:c.391C>G	NP_001026896.2:p.Gln131Glu
NM_001256046.1:c.303C>G	NP_001242975.1:p.Ser101Arg
NM_001256047.1:c.358C>G	NP_001242976.1:p.Gln120Glu
NM_001282929.1:c.166C>G	NP_001269858.1:p.Gln56Glu
NM_001282930.1:c.166C>G	NP_001269859.1:p.Gln56Glu
NM_001282931.1:c.166C>G	NP_001269860.1:p.Gln56Glu
NM_031448.4:c.358C>G	NP_113636.2:p.Gln120Glu
XM_024451734.1:c.520C>G	XP_024307502.1:p.Gln174Glu
XM_024451735.1:c.358C>G	XP_024307503.1:p.Gln120Glu
XM_024451736.1:c.358C>G	XP_024307504.1:p.Gln120Glu
XM_024451737.1:c.358C>G	XP_024307505.1:p.Gln120Glu
XM_024451738.1:c.358C>G	XP_024307506.1:p.Gln120Glu
NM_001256046.2:c.303C>G	NP_001242975.1:p.Ser101Arg
NM_001282930.2:c.166C>G	NP_001269859.1:p.Gln56Glu
NM_001282931.2:c.166C>G	NP_001269860.1:p.Gln56Glu
NM_031448.6:c.358C>G MANE Select	NP_113636.2:p.Gln120Glu
NM_001031726.4:c.358C>G	NP_001026896.3:p.Gln120Glu
NM_001256046.3:c.303C>G	NP_001242975.1:p.Ser101Arg
NM_001256047.2:c.358C>G	NP_001242976.1:p.Gln120Glu
NM_001282930.3:c.166C>G	NP_001269859.1:p.Gln56Glu
NM_001282931.3:c.166C>G	NP_001269860.1:p.Gln56Glu