Canonical Allele Identifier: CA288187860

Gene: TTC19

Linked Data

• ClinVar Variation Id: 506556
• ClinVar RCV Id: RCV000602316 ; RCV002062807
• dbSNP Id: rs913641566
• gnomAD v2: 17-15903357-C-G
• gnomAD v3: 17-16000043-C-G
• gnomAD v4: 17-16000043-C-G
• MyVariant Identifiers: chr17:g.15903357C>G (hg19) ; chr17:g.16000043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000043C>G , CM000679.2:g.16000043C>G	GRCh38
NC_000017.10:g.15903357C>G , CM000679.1:g.15903357C>G	GRCh37
NC_000017.9:g.15844082C>G	NCBI36
NG_029806.1:g.5664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+11C>G MANE Select	ENSP00000261647.5:n.184+11C>G
ENST00000261647.9:c.184+11C>G	ENSP00000261647.5:n.184+11C>G
ENST00000466729.5:c.249+11C>G
ENST00000470399.1:c.199+11C>G	ENSP00000465082.1:n.199+11C>G
ENST00000475723.5:c.231+11C>G
ENST00000497842.6:n.220C>G
ENST00000583704.1:n.209+11C>G
NM_001271420.1:c.-275+11C>G	NP_001258349.1:n.-275+11C>G
NM_017775.3:c.184+11C>G	NP_060245.3:n.184+11C>G
XM_011523950.1:c.184+11C>G	XP_011522252.1:n.184+11C>G
XM_017024801.2:c.184+11C>G	XP_016880290.2:n.184+11C>G
XM_017024802.2:c.184+11C>G	XP_016880291.2:n.184+11C>G
XM_024450814.1:c.184+11C>G	XP_024306582.1:n.184+11C>G
NM_017775.4:c.184+11C>G MANE Select	NP_060245.3:n.184+11C>G
NM_001271420.2:c.-275+11C>G	NP_001258349.1:n.-275+11C>G