Canonical Allele Identifier: CA8407469

Gene: TTC19

Linked Data

• ClinVar Variation Id: 3184142
• ClinVar RCV Id: RCV004479028
• dbSNP Id: rs747453007
• ExAC: 17:15909824 T / G
• gnomAD v2: 17-15909824-T-G
• gnomAD v4: 17-16006510-T-G
• MyVariant Identifiers: chr17:g.15909824T>G (hg19) ; chr17:g.16006510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16006510T>G , CM000679.2:g.16006510T>G	GRCh38
NC_000017.10:g.15909824T>G , CM000679.1:g.15909824T>G	GRCh37
NC_000017.9:g.15850549T>G	NCBI36
NG_029806.1:g.12131T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.618T>G MANE Select	ENSP00000261647.5:p.Ile206Met
ENST00000261647.9:c.618T>G	ENSP00000261647.5:p.Ile206Met
ENST00000475723.5:c.802T>G
ENST00000497842.6:n.728T>G
NM_001271420.1:c.297T>G	NP_001258349.1:p.Ile99Met
NM_017775.3:c.618T>G	NP_060245.3:p.Ile206Met
XM_011523950.1:c.618T>G	XP_011522252.1:p.Ile206Met
XR_934261.1:n.1791+653A>C
XM_017024801.2:c.618T>G	XP_016880290.2:p.Ile206Met
XM_017024802.2:c.618T>G	XP_016880291.2:p.Ile206Met
XM_024450814.1:c.618T>G	XP_024306582.1:p.Ile206Met
NM_017775.4:c.618T>G MANE Select	NP_060245.3:p.Ile206Met
NM_001271420.2:c.297T>G	NP_001258349.1:p.Ile99Met