Canonical Allele Identifier: CA398388880

Gene: TTC19

Linked Data

• gnomAD v4: 17-16006542-A-G
• MyVariant Identifiers: chr17:g.15909856A>G (hg19) ; chr17:g.16006542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16006542A>G , CM000679.2:g.16006542A>G	GRCh38
NC_000017.10:g.15909856A>G , CM000679.1:g.15909856A>G	GRCh37
NC_000017.9:g.15850581A>G	NCBI36
NG_029806.1:g.12163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.650A>G MANE Select	ENSP00000261647.5:p.Lys217Arg
ENST00000261647.9:c.650A>G	ENSP00000261647.5:p.Lys217Arg
ENST00000475723.5:c.834A>G
ENST00000497842.6:n.760A>G
NM_001271420.1:c.329A>G	NP_001258349.1:p.Lys110Arg
NM_017775.3:c.650A>G	NP_060245.3:p.Lys217Arg
XM_011523950.1:c.650A>G	XP_011522252.1:p.Lys217Arg
XR_934261.1:n.1791+621T>C
XM_017024801.2:c.650A>G	XP_016880290.2:p.Lys217Arg
XM_017024802.2:c.650A>G	XP_016880291.2:p.Lys217Arg
XM_024450814.1:c.650A>G	XP_024306582.1:p.Lys217Arg
NM_017775.4:c.650A>G MANE Select	NP_060245.3:p.Lys217Arg
NM_001271420.2:c.329A>G	NP_001258349.1:p.Lys110Arg