Canonical Allele Identifier: CA8407605

Gene: TTC19

Linked Data

• dbSNP Id: rs752233633
• ExAC: 17:15930809 A / G
• gnomAD v2: 17-15930809-A-G
• gnomAD v3: 17-16027495-A-G
• gnomAD v4: 17-16027495-A-G
• MyVariant Identifiers: chr17:g.15930809A>G (hg19) ; chr17:g.16027495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027495A>G , CM000679.2:g.16027495A>G	GRCh38
NC_000017.10:g.15930809A>G , CM000679.1:g.15930809A>G	GRCh37
NC_000017.9:g.15871534A>G	NCBI36
NG_029806.1:g.33116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1116A>G MANE Select	ENSP00000261647.5:p.Arg372=
ENST00000261647.9:c.1116A>G	ENSP00000261647.5:p.Arg372=
ENST00000465567.1:n.1510A>G
ENST00000470649.1:c.247+793A>G	ENSP00000465627.1:n.247+793A>G
ENST00000475723.5:c.1300A>G
ENST00000481107.1:n.1784A>G
ENST00000497842.6:n.1320A>G
NM_001271420.1:c.795A>G	NP_001258349.1:p.Arg265=
NM_017775.3:c.1116A>G	NP_060245.3:p.Arg372=
XM_017024801.2:c.994+793A>G	XP_016880290.2:n.994+793A>G
XM_017024802.2:c.994+793A>G	XP_016880291.2:n.994+793A>G
NM_017775.4:c.1116A>G MANE Select	NP_060245.3:p.Arg372=
NM_001271420.2:c.795A>G	NP_001258349.1:p.Arg265=