Canonical Allele Identifier: CA8407613

Gene: TTC19

Linked Data

• dbSNP Id: rs777070324
• ExAC: 17:15930879 G / A
• gnomAD v4: 17-16027565-G-A
• MyVariant Identifiers: chr17:g.15930879G>A (hg19) ; chr17:g.16027565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027565G>A , CM000679.2:g.16027565G>A	GRCh38
NC_000017.10:g.15930879G>A , CM000679.1:g.15930879G>A	GRCh37
NC_000017.9:g.15871604G>A	NCBI36
NG_029806.1:g.33186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*43G>A MANE Select	ENSP00000261647.5:n.*43G>A
ENST00000261647.9:c.*43G>A	ENSP00000261647.5:n.*43G>A
ENST00000465567.1:n.1580G>A
ENST00000470649.1:c.247+863G>A	ENSP00000465627.1:n.247+863G>A
ENST00000475723.5:c.1370G>A
ENST00000481107.1:n.1854G>A
NM_001271420.1:c.*43G>A	NP_001258349.1:n.*43G>A
NM_017775.3:c.*43G>A	NP_060245.3:n.*43G>A
XM_017024801.2:c.994+863G>A	XP_016880290.2:n.994+863G>A
XM_017024802.2:c.994+863G>A	XP_016880291.2:n.994+863G>A
NM_017775.4:c.*43G>A MANE Select	NP_060245.3:n.*43G>A
NM_001271420.2:c.*43G>A	NP_001258349.1:n.*43G>A