Canonical Allele Identifier: CA8407231

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1302506
• ClinVar RCV Id: RCV001754395
• dbSNP Id: rs2302414
• ExAC: 17:15903162 C / G
• gnomAD v2: 17-15903162-C-G
• gnomAD v3: 17-15999848-C-G
• gnomAD v4: 17-15999848-C-G
• MyVariant Identifiers: chr17:g.15903162C>G (hg19) ; chr17:g.15999848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999848C>G , CM000679.2:g.15999848C>G	GRCh38
NC_000017.10:g.15903162C>G , CM000679.1:g.15903162C>G	GRCh37
NC_000017.9:g.15843887C>G	NCBI36
NG_029806.1:g.5469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.-1C>G MANE Select	ENSP00000261647.5:n.-1C>G
ENST00000261647.9:c.-1C>G	ENSP00000261647.5:n.-1C>G
ENST00000466729.5:c.65C>G
ENST00000470399.1:c.15C>G	ENSP00000465082.1:p.Ser5Arg
ENST00000475723.5:c.47C>G
ENST00000497842.6:n.25C>G
ENST00000583704.1:n.25C>G
NM_001271420.1:c.-459C>G	NP_001258349.1:n.-459C>G
NM_017775.3:c.-1C>G	NP_060245.3:n.-1C>G
XM_011523950.1:c.-1C>G	XP_011522252.1:n.-1C>G
XM_017024801.2:c.-1C>G	XP_016880290.2:n.-1C>G
XM_017024802.2:c.-1C>G	XP_016880291.2:n.-1C>G
XM_024450814.1:c.-1C>G	XP_024306582.1:n.-1C>G
NM_017775.4:c.-1C>G MANE Select	NP_060245.3:n.-1C>G
NM_001271420.2:c.-459C>G	NP_001258349.1:n.-459C>G