Canonical Allele Identifier: CA10642561

Gene: C19orf12

Linked Data

• ClinVar Variation Id: 328730
• ClinVar RCV Id: RCV000369500
• dbSNP Id: rs886054322
• MyVariant Identifiers: chr19:g.30199241T>A (hg19) ; chr19:g.29708334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29708334T>A , CM000681.2:g.29708334T>A	GRCh38
NC_000019.9:g.30199241T>A , CM000681.1:g.30199241T>A	GRCh37
NC_000019.8:g.34891081T>A	NCBI36
NG_031970.1:g.12456A>T
NG_031970.2:g.12456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.80A>T	ENSP00000482097.2:p.His27Leu
ENST00000623113.3:c.80A>T	ENSP00000485413.2:p.His27Leu
ENST00000323670.14:c.80A>T MANE Select	ENSP00000313332.9:p.His27Leu
ENST00000323670.13:c.80A>T	ENSP00000313332.8:p.His27Leu
ENST00000342680.5:c.80A>T	ENSP00000345497.5:p.His27Leu
ENST00000392275.1:n.552-5357A>T
ENST00000392276.1:c.-32-5357A>T	ENSP00000376102.1:n.-32-5357A>T
ENST00000392278.2:c.113A>T	ENSP00000376103.2:p.His38Leu
ENST00000591243.1:c.80A>T	ENSP00000467516.1:p.His27Leu
ENST00000592153.5:c.80A>T	ENSP00000467117.1:p.His27Leu
ENST00000614091.4:c.80A>T	ENSP00000482097.1:p.His27Leu
ENST00000623113.1:c.-32-5357A>T	ENSP00000485413.1:n.-32-5357A>T
NM_001031726.3:c.113A>T	NP_001026896.2:p.His38Leu
NM_001256046.1:c.80A>T	NP_001242975.1:p.His27Leu
NM_001256047.1:c.80A>T	NP_001242976.1:p.His27Leu
NM_001282929.1:c.-32-5357A>T	NP_001269858.1:n.-32-5357A>T
NM_001282930.1:c.-32-5357A>T	NP_001269859.1:n.-32-5357A>T
NM_001282931.1:c.-234A>T	NP_001269860.1:n.-234A>T
NM_031448.4:c.80A>T	NP_113636.2:p.His27Leu
XM_024451734.1:c.242A>T	XP_024307502.1:p.His81Leu
XM_024451735.1:c.80A>T	XP_024307503.1:p.His27Leu
XM_024451736.1:c.80A>T	XP_024307504.1:p.His27Leu
XM_024451737.1:c.80A>T	XP_024307505.1:p.His27Leu
XM_024451738.1:c.80A>T	XP_024307506.1:p.His27Leu
NM_001256046.2:c.80A>T	NP_001242975.1:p.His27Leu
NM_001282930.2:c.-32-5357A>T	NP_001269859.1:n.-32-5357A>T
NM_001282931.2:c.-234A>T	NP_001269860.1:n.-234A>T
NM_031448.6:c.80A>T MANE Select	NP_113636.2:p.His27Leu
NM_001031726.4:c.80A>T	NP_001026896.3:p.His27Leu
NM_001256046.3:c.80A>T	NP_001242975.1:p.His27Leu
NM_001256047.2:c.80A>T	NP_001242976.1:p.His27Leu
NM_001282930.3:c.-32-5357A>T	NP_001269859.1:n.-32-5357A>T
NM_001282931.3:c.-234A>T	NP_001269860.1:n.-234A>T