Canonical Allele Identifier: CA10638967

Gene: TTC19

Linked Data

• ClinVar Variation Id: 321960
• ClinVar RCV Id: RCV000261054
• dbSNP Id: rs886052631
• gnomAD v2: 17-15931512-C-T
• gnomAD v3: 17-16028198-C-T
• gnomAD v4: 17-16028198-C-T
• MyVariant Identifiers: chr17:g.15931512C>T (hg19) ; chr17:g.16028198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028198C>T , CM000679.2:g.16028198C>T	GRCh38
NC_000017.10:g.15931512C>T , CM000679.1:g.15931512C>T	GRCh37
NC_000017.9:g.15872237C>T	NCBI36
NG_029806.1:g.33819C>T
NG_047111.1:g.193549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*676C>T MANE Select	ENSP00000261647.5:n.*676C>T
ENST00000261647.9:c.*676C>T	ENSP00000261647.5:n.*676C>T
ENST00000465567.1:n.2213C>T
ENST00000470649.1:c.247+1496C>T	ENSP00000465627.1:n.247+1496C>T
ENST00000475723.5:c.2003C>T
ENST00000481107.1:n.2487C>T
NM_001271420.1:c.*676C>T	NP_001258349.1:n.*676C>T
NM_017775.3:c.*676C>T	NP_060245.3:n.*676C>T
XM_017024801.2:c.994+1496C>T	XP_016880290.2:n.994+1496C>T
XM_017024802.2:c.994+1496C>T	XP_016880291.2:n.994+1496C>T
NM_017775.4:c.*676C>T MANE Select	NP_060245.3:n.*676C>T
NM_001271420.2:c.*676C>T	NP_001258349.1:n.*676C>T