Canonical Allele Identifier: CA9351916

Gene: C19orf12

Linked Data

• dbSNP Id: rs749348764
• ExAC: 19:30193852 T / A
• gnomAD v2: 19-30193852-T-A
• MyVariant Identifiers: chr19:g.30193852T>A (hg19) ; chr19:g.29702945T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702945T>A , CM000681.2:g.29702945T>A	GRCh38
NC_000019.9:g.30193852T>A , CM000681.1:g.30193852T>A	GRCh37
NC_000019.8:g.34885692T>A	NCBI36
NG_031970.1:g.17845A>T
NG_031970.2:g.17845A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614091.5:c.193A>T	ENSP00000482097.2:p.Met65Leu
ENST00000623113.3:c.193A>T	ENSP00000485413.2:p.Met65Leu
ENST00000323670.14:c.193A>T MANE Select	ENSP00000313332.9:p.Met65Leu
ENST00000323670.13:c.193A>T	ENSP00000313332.8:p.Met65Leu
ENST00000342680.5:c.*107A>T	ENSP00000345497.5:n.*107A>T
ENST00000392275.1:n.584A>T
ENST00000392276.1:c.1A>T	ENSP00000376102.1:p.Met1Leu
ENST00000392278.2:c.226A>T	ENSP00000376103.2:p.Met76Leu
ENST00000591243.1:c.193A>T	ENSP00000467516.1:p.Met65Leu
ENST00000592153.5:c.193A>T	ENSP00000467117.1:p.Met65Leu
ENST00000614091.4:c.193A>T	ENSP00000482097.1:p.Met65Leu
ENST00000623113.1:c.1A>T	ENSP00000485413.1:p.Met1Leu
NM_001031726.3:c.226A>T	NP_001026896.2:p.Met76Leu
NM_001256046.1:c.193A>T	NP_001242975.1:p.Met65Leu
NM_001256047.1:c.193A>T	NP_001242976.1:p.Met65Leu
NM_001282929.1:c.1A>T	NP_001269858.1:p.Met1Leu
NM_001282930.1:c.1A>T	NP_001269859.1:p.Met1Leu
NM_001282931.1:c.1A>T	NP_001269860.1:p.Met1Leu
NM_031448.4:c.193A>T	NP_113636.2:p.Met65Leu
XM_024451734.1:c.355A>T	XP_024307502.1:p.Met119Leu
XM_024451735.1:c.193A>T	XP_024307503.1:p.Met65Leu
XM_024451736.1:c.193A>T	XP_024307504.1:p.Met65Leu
XM_024451737.1:c.193A>T	XP_024307505.1:p.Met65Leu
XM_024451738.1:c.193A>T	XP_024307506.1:p.Met65Leu
NM_001256046.2:c.193A>T	NP_001242975.1:p.Met65Leu
NM_001282930.2:c.1A>T	NP_001269859.1:p.Met1Leu
NM_001282931.2:c.1A>T	NP_001269860.1:p.Met1Leu
NM_031448.6:c.193A>T MANE Select	NP_113636.2:p.Met65Leu
NM_001031726.4:c.193A>T	NP_001026896.3:p.Met65Leu
NM_001256046.3:c.193A>T	NP_001242975.1:p.Met65Leu
NM_001256047.2:c.193A>T	NP_001242976.1:p.Met65Leu
NM_001282930.3:c.1A>T	NP_001269859.1:p.Met1Leu
NM_001282931.3:c.1A>T	NP_001269860.1:p.Met1Leu