Canonical Allele Identifier: CA8407672

Gene: TTC19

Linked Data

• ClinVar Variation Id: 321961
• ClinVar RCV Id: RCV000316310
• dbSNP Id: rs11554356
• ExAC: 17:15931545 T / A
• gnomAD v2: 17-15931545-T-A
• gnomAD v3: 17-16028231-T-A
• gnomAD v4: 17-16028231-T-A
• MyVariant Identifiers: chr17:g.15931545T>A (hg19) ; chr17:g.16028231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028231T>A , CM000679.2:g.16028231T>A	GRCh38
NC_000017.10:g.15931545T>A , CM000679.1:g.15931545T>A	GRCh37
NC_000017.9:g.15872270T>A	NCBI36
NG_029806.1:g.33852T>A
NG_047111.1:g.193516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*709T>A MANE Select	ENSP00000261647.5:n.*709T>A
ENST00000261647.9:c.*709T>A	ENSP00000261647.5:n.*709T>A
ENST00000465567.1:n.2246T>A
ENST00000470649.1:c.247+1529T>A	ENSP00000465627.1:n.247+1529T>A
ENST00000475723.5:c.2036T>A
ENST00000481107.1:n.2520T>A
NM_001271420.1:c.*709T>A	NP_001258349.1:n.*709T>A
NM_017775.3:c.*709T>A	NP_060245.3:n.*709T>A
XM_017024801.2:c.994+1529T>A	XP_016880290.2:n.994+1529T>A
XM_017024802.2:c.994+1529T>A	XP_016880291.2:n.994+1529T>A
NM_017775.4:c.*709T>A MANE Select	NP_060245.3:n.*709T>A
NM_001271420.2:c.*709T>A	NP_001258349.1:n.*709T>A