Canonical Allele Identifier: CA398388367

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15909797T>A (hg19) ; chr17:g.16006483T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16006483T>A , CM000679.2:g.16006483T>A	GRCh38
NC_000017.10:g.15909797T>A , CM000679.1:g.15909797T>A	GRCh37
NC_000017.9:g.15850522T>A	NCBI36
NG_029806.1:g.12104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.591T>A MANE Select	ENSP00000261647.5:p.Phe197Leu
ENST00000261647.9:c.591T>A	ENSP00000261647.5:p.Phe197Leu
ENST00000475723.5:c.775T>A
ENST00000497842.6:n.701T>A
NM_001271420.1:c.270T>A	NP_001258349.1:p.Phe90Leu
NM_017775.3:c.591T>A	NP_060245.3:p.Phe197Leu
XM_011523950.1:c.591T>A	XP_011522252.1:p.Phe197Leu
XR_934261.1:n.1791+680A>T
XM_017024801.2:c.591T>A	XP_016880290.2:p.Phe197Leu
XM_017024802.2:c.591T>A	XP_016880291.2:p.Phe197Leu
XM_024450814.1:c.591T>A	XP_024306582.1:p.Phe197Leu
NM_017775.4:c.591T>A MANE Select	NP_060245.3:p.Phe197Leu
NM_001271420.2:c.270T>A	NP_001258349.1:p.Phe90Leu