Canonical Allele Identifier: CA2249815060

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1969381
• ClinVar RCV Id: RCV002717162
• dbSNP Id: rs1970668074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000048C>G , CM000679.2:g.16000048C>G	GRCh38
NC_000017.10:g.15903362C>G , CM000679.1:g.15903362C>G	GRCh37
NC_000017.9:g.15844087C>G	NCBI36
NG_029806.1:g.5669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+16C>G MANE Select	ENSP00000261647.5:n.184+16C>G
ENST00000261647.9:c.184+16C>G	ENSP00000261647.5:n.184+16C>G
ENST00000466729.5:c.249+16C>G
ENST00000470399.1:c.199+16C>G	ENSP00000465082.1:n.199+16C>G
ENST00000475723.5:c.231+16C>G
ENST00000497842.6:n.225C>G
ENST00000583704.1:n.209+16C>G
NM_001271420.1:c.-275+16C>G	NP_001258349.1:n.-275+16C>G
NM_017775.3:c.184+16C>G	NP_060245.3:n.184+16C>G
XM_011523950.1:c.184+16C>G	XP_011522252.1:n.184+16C>G
XM_017024801.2:c.184+16C>G	XP_016880290.2:n.184+16C>G
XM_017024802.2:c.184+16C>G	XP_016880291.2:n.184+16C>G
XM_024450814.1:c.184+16C>G	XP_024306582.1:n.184+16C>G
NM_017775.4:c.184+16C>G MANE Select	NP_060245.3:n.184+16C>G
NM_001271420.2:c.-275+16C>G	NP_001258349.1:n.-275+16C>G