Canonical Allele Identifier: CA8407612

Gene: TTC19

Linked Data

• ClinVar Variation Id: 321951
• ClinVar RCV Id: RCV000396546 ; RCV001572443
• dbSNP Id: rs150843177
• ExAC: 17:15930863 G / A
• gnomAD v2: 17-15930863-G-A
• gnomAD v3: 17-16027549-G-A
• gnomAD v4: 17-16027549-G-A
• MyVariant Identifiers: chr17:g.15930863G>A (hg19) ; chr17:g.16027549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027549G>A , CM000679.2:g.16027549G>A	GRCh38
NC_000017.10:g.15930863G>A , CM000679.1:g.15930863G>A	GRCh37
NC_000017.9:g.15871588G>A	NCBI36
NG_029806.1:g.33170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*27G>A MANE Select	ENSP00000261647.5:n.*27G>A
ENST00000261647.9:c.*27G>A	ENSP00000261647.5:n.*27G>A
ENST00000465567.1:n.1564G>A
ENST00000470649.1:c.247+847G>A	ENSP00000465627.1:n.247+847G>A
ENST00000475723.5:c.1354G>A
ENST00000481107.1:n.1838G>A
NM_001271420.1:c.*27G>A	NP_001258349.1:n.*27G>A
NM_017775.3:c.*27G>A	NP_060245.3:n.*27G>A
XM_017024801.2:c.994+847G>A	XP_016880290.2:n.994+847G>A
XM_017024802.2:c.994+847G>A	XP_016880291.2:n.994+847G>A
NM_017775.4:c.*27G>A MANE Select	NP_060245.3:n.*27G>A
NM_001271420.2:c.*27G>A	NP_001258349.1:n.*27G>A