Canonical Allele Identifier: CA405142328

Gene: C19orf12

Linked Data

• MyVariant Identifiers: chr19:g.30193656G>T (hg19) ; chr19:g.29702749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.29702749G>T , CM000681.2:g.29702749G>T	GRCh38
NC_000019.9:g.30193656G>T , CM000681.1:g.30193656G>T	GRCh37
NC_000019.8:g.34885496G>T	NCBI36
NG_031970.1:g.18041C>A
NG_031970.2:g.18041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623113.3:c.389C>A	ENSP00000485413.2:p.Thr130Asn
ENST00000323670.14:c.389C>A MANE Select	ENSP00000313332.9:p.Thr130Asn
ENST00000323670.13:c.389C>A	ENSP00000313332.8:p.Thr130Asn
ENST00000392275.1:n.780C>A
ENST00000392276.1:c.197C>A	ENSP00000376102.1:p.Thr66Asn
ENST00000392278.2:c.422C>A	ENSP00000376103.2:p.Thr141Asn
ENST00000592153.5:c.*10C>A	ENSP00000467117.1:n.*10C>A
ENST00000614091.4:c.389C>A	ENSP00000482097.1:p.Thr130Asn
ENST00000623113.1:c.197C>A	ENSP00000485413.1:p.Thr66Asn
NM_001031726.3:c.422C>A	NP_001026896.2:p.Thr141Asn
NM_001256046.1:c.*10C>A	NP_001242975.1:n.*10C>A
NM_001256047.1:c.389C>A	NP_001242976.1:p.Thr130Asn
NM_001282929.1:c.197C>A	NP_001269858.1:p.Thr66Asn
NM_001282930.1:c.197C>A	NP_001269859.1:p.Thr66Asn
NM_001282931.1:c.197C>A	NP_001269860.1:p.Thr66Asn
NM_031448.4:c.389C>A	NP_113636.2:p.Thr130Asn
XM_024451734.1:c.551C>A	XP_024307502.1:p.Thr184Asn
XM_024451735.1:c.389C>A	XP_024307503.1:p.Thr130Asn
XM_024451736.1:c.389C>A	XP_024307504.1:p.Thr130Asn
XM_024451737.1:c.389C>A	XP_024307505.1:p.Thr130Asn
XM_024451738.1:c.389C>A	XP_024307506.1:p.Thr130Asn
NM_001256046.2:c.*10C>A	NP_001242975.1:n.*10C>A
NM_001282930.2:c.197C>A	NP_001269859.1:p.Thr66Asn
NM_001282931.2:c.197C>A	NP_001269860.1:p.Thr66Asn
NM_031448.6:c.389C>A MANE Select	NP_113636.2:p.Thr130Asn
NM_001031726.4:c.389C>A	NP_001026896.3:p.Thr130Asn
NM_001256046.3:c.*10C>A	NP_001242975.1:n.*10C>A
NM_001256047.2:c.389C>A	NP_001242976.1:p.Thr130Asn
NM_001282930.3:c.197C>A	NP_001269859.1:p.Thr66Asn
NM_001282931.3:c.197C>A	NP_001269860.1:p.Thr66Asn