Canonical Allele Identifier: CA398381815

Gene: TTC19

Linked Data

• dbSNP Id: rs1297530982
• gnomAD v4: 17-15999853-T-A
• MyVariant Identifiers: chr17:g.15903167T>A (hg19) ; chr17:g.15999853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999853T>A , CM000679.2:g.15999853T>A	GRCh38
NC_000017.10:g.15903167T>A , CM000679.1:g.15903167T>A	GRCh37
NC_000017.9:g.15843892T>A	NCBI36
NG_029806.1:g.5474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.5T>A MANE Select	ENSP00000261647.5:p.Phe2Tyr
ENST00000261647.9:c.5T>A	ENSP00000261647.5:p.Phe2Tyr
ENST00000466729.5:c.70T>A
ENST00000470399.1:c.20T>A	ENSP00000465082.1:p.Phe7Tyr
ENST00000475723.5:c.52T>A
ENST00000497842.6:n.30T>A
ENST00000583704.1:n.30T>A
NM_001271420.1:c.-454T>A	NP_001258349.1:n.-454T>A
NM_017775.3:c.5T>A	NP_060245.3:p.Phe2Tyr
XM_011523950.1:c.5T>A	XP_011522252.1:p.Phe2Tyr
XM_017024801.2:c.5T>A	XP_016880290.2:p.Phe2Tyr
XM_017024802.2:c.5T>A	XP_016880291.2:p.Phe2Tyr
XM_024450814.1:c.5T>A	XP_024306582.1:p.Phe2Tyr
NM_017775.4:c.5T>A MANE Select	NP_060245.3:p.Phe2Tyr
NM_001271420.2:c.-454T>A	NP_001258349.1:n.-454T>A