Canonical Allele Identifier: CA398379151

Gene: TTC19

Linked Data

• dbSNP Id: rs2151686696
• gnomAD v4: 17-16027463-G-A
• MyVariant Identifiers: chr17:g.15930777G>A (hg19) ; chr17:g.16027463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027463G>A , CM000679.2:g.16027463G>A	GRCh38
NC_000017.10:g.15930777G>A , CM000679.1:g.15930777G>A	GRCh37
NC_000017.9:g.15871502G>A	NCBI36
NG_029806.1:g.33084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1084G>A MANE Select	ENSP00000261647.5:p.Glu362Lys
ENST00000261647.9:c.1084G>A	ENSP00000261647.5:p.Glu362Lys
ENST00000465567.1:n.1478G>A
ENST00000470649.1:c.247+761G>A	ENSP00000465627.1:n.247+761G>A
ENST00000475723.5:c.1268G>A
ENST00000481107.1:n.1752G>A
ENST00000497842.6:n.1288G>A
NM_001271420.1:c.763G>A	NP_001258349.1:p.Glu255Lys
NM_017775.3:c.1084G>A	NP_060245.3:p.Glu362Lys
XM_017024801.2:c.994+761G>A	XP_016880290.2:n.994+761G>A
XM_017024802.2:c.994+761G>A	XP_016880291.2:n.994+761G>A
NM_017775.4:c.1084G>A MANE Select	NP_060245.3:p.Glu362Lys
NM_001271420.2:c.763G>A	NP_001258349.1:p.Glu255Lys