Canonical Allele Identifier: CA8407601

Gene: TTC19

Linked Data

• dbSNP Id: rs751511164
• ExAC: 17:15930791 G / A
• gnomAD v2: 17-15930791-G-A
• MyVariant Identifiers: chr17:g.15930791G>A (hg19) ; chr17:g.16027477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027477G>A , CM000679.2:g.16027477G>A	GRCh38
NC_000017.10:g.15930791G>A , CM000679.1:g.15930791G>A	GRCh37
NC_000017.9:g.15871516G>A	NCBI36
NG_029806.1:g.33098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1098G>A MANE Select	ENSP00000261647.5:p.Glu366=
ENST00000261647.9:c.1098G>A	ENSP00000261647.5:p.Glu366=
ENST00000465567.1:n.1492G>A
ENST00000470649.1:c.247+775G>A	ENSP00000465627.1:n.247+775G>A
ENST00000475723.5:c.1282G>A
ENST00000481107.1:n.1766G>A
ENST00000497842.6:n.1302G>A
NM_001271420.1:c.777G>A	NP_001258349.1:p.Glu259=
NM_017775.3:c.1098G>A	NP_060245.3:p.Glu366=
XM_017024801.2:c.994+775G>A	XP_016880290.2:n.994+775G>A
XM_017024802.2:c.994+775G>A	XP_016880291.2:n.994+775G>A
NM_017775.4:c.1098G>A MANE Select	NP_060245.3:p.Glu366=
NM_001271420.2:c.777G>A	NP_001258349.1:p.Glu259=