Canonical Allele Identifier: CA288164612

Gene: TTC19

Linked Data

• dbSNP Id: rs192522753
• gnomAD v3: 17-16027376-C-A
• gnomAD v4: 17-16027376-C-A
• MyVariant Identifiers: chr17:g.15930690C>A (hg19) ; chr17:g.16027376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027376C>A , CM000679.2:g.16027376C>A	GRCh38
NC_000017.10:g.15930690C>A , CM000679.1:g.15930690C>A	GRCh37
NC_000017.9:g.15871415C>A	NCBI36
NG_029806.1:g.32997C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.997C>A MANE Select	ENSP00000261647.5:p.Arg333=
ENST00000261647.9:c.997C>A	ENSP00000261647.5:p.Arg333=
ENST00000465567.1:n.1391C>A
ENST00000470649.1:c.247+674C>A	ENSP00000465627.1:n.247+674C>A
ENST00000475723.5:c.1181C>A
ENST00000481107.1:n.1665C>A
ENST00000497842.6:n.1201C>A
NM_001271420.1:c.676C>A	NP_001258349.1:p.Arg226=
NM_017775.3:c.997C>A	NP_060245.3:p.Arg333=
XM_017024801.2:c.994+674C>A	XP_016880290.2:n.994+674C>A
XM_017024802.2:c.994+674C>A	XP_016880291.2:n.994+674C>A
NM_017775.4:c.997C>A MANE Select	NP_060245.3:p.Arg333=
NM_001271420.2:c.676C>A	NP_001258349.1:p.Arg226=