Canonical Allele Identifier: CA398381813

Gene: TTC19

Linked Data

• ClinVar Variation Id: 2109652
• ClinVar RCV Id: RCV003038473
• gnomAD v4: 17-15999852-T-G
• MyVariant Identifiers: chr17:g.15903166T>G (hg19) ; chr17:g.15999852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999852T>G , CM000679.2:g.15999852T>G	GRCh38
NC_000017.10:g.15903166T>G , CM000679.1:g.15903166T>G	GRCh37
NC_000017.9:g.15843891T>G	NCBI36
NG_029806.1:g.5473T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.4T>G MANE Select	ENSP00000261647.5:p.Phe2Val
ENST00000261647.9:c.4T>G	ENSP00000261647.5:p.Phe2Val
ENST00000466729.5:c.69T>G
ENST00000470399.1:c.19T>G	ENSP00000465082.1:p.Phe7Val
ENST00000475723.5:c.51T>G
ENST00000497842.6:n.29T>G
ENST00000583704.1:n.29T>G
NM_001271420.1:c.-455T>G	NP_001258349.1:n.-455T>G
NM_017775.3:c.4T>G	NP_060245.3:p.Phe2Val
XM_011523950.1:c.4T>G	XP_011522252.1:p.Phe2Val
XM_017024801.2:c.4T>G	XP_016880290.2:p.Phe2Val
XM_017024802.2:c.4T>G	XP_016880291.2:p.Phe2Val
XM_024450814.1:c.4T>G	XP_024306582.1:p.Phe2Val
NM_017775.4:c.4T>G MANE Select	NP_060245.3:p.Phe2Val
NM_001271420.2:c.-455T>G	NP_001258349.1:n.-455T>G