Canonical Allele Identifier: CA398378273

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027377G>A , CM000679.2:g.16027377G>A	GRCh38
NC_000017.10:g.15930691G>A , CM000679.1:g.15930691G>A	GRCh37
NC_000017.9:g.15871416G>A	NCBI36
NG_029806.1:g.32998G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017775.4:c.998G>A MANE Select	NP_060245.3:p.Arg333Gln
ENST00000261647.10:c.998G>A MANE Select	ENSP00000261647.5:p.Arg333Gln
NM_001271420.1:c.677G>A	NP_001258349.1:p.Arg226Gln
NM_001271420.2:c.677G>A	NP_001258349.1:p.Arg226Gln
NM_017775.3:c.998G>A	NP_060245.3:p.Arg333Gln
ENST00000261647.9:c.998G>A	ENSP00000261647.5:p.Arg333Gln
ENST00000465567.1:n.1392G>A
ENST00000470649.1:c.247+675G>A	ENSP00000465627.1:n.247+675G>A
ENST00000475723.5:c.1182G>A
ENST00000481107.1:n.1666G>A
ENST00000497842.6:n.1202G>A
XM_017024801.2:c.994+675G>A	XP_016880290.2:n.994+675G>A
XM_017024802.2:c.994+675G>A	XP_016880291.2:n.994+675G>A