Canonical Allele Identifier: CA624957589

Gene: TTC19

Linked Data

• dbSNP Id: rs1171245729
• gnomAD v2: 17-15931649-C-A
• gnomAD v3: 17-16028335-C-A
• gnomAD v4: 17-16028335-C-A
• MyVariant Identifiers: chr17:g.15931649C>A (hg19) ; chr17:g.16028335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028335C>A , CM000679.2:g.16028335C>A	GRCh38
NC_000017.10:g.15931649C>A , CM000679.1:g.15931649C>A	GRCh37
NC_000017.9:g.15872374C>A	NCBI36
NG_029806.1:g.33956C>A
NG_047111.1:g.193412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*813C>A MANE Select	ENSP00000261647.5:n.*813C>A
ENST00000261647.9:c.*813C>A	ENSP00000261647.5:n.*813C>A
ENST00000465567.1:n.2350C>A
ENST00000470649.1:c.247+1633C>A	ENSP00000465627.1:n.247+1633C>A
ENST00000475723.5:c.2140C>A
ENST00000481107.1:n.2624C>A
NM_001271420.1:c.*813C>A	NP_001258349.1:n.*813C>A
NM_017775.3:c.*813C>A	NP_060245.3:n.*813C>A
XM_017024801.2:c.994+1633C>A	XP_016880290.2:n.994+1633C>A
XM_017024802.2:c.994+1633C>A	XP_016880291.2:n.994+1633C>A
NM_017775.4:c.*813C>A MANE Select	NP_060245.3:n.*813C>A
NM_001271420.2:c.*813C>A	NP_001258349.1:n.*813C>A