Canonical Allele Identifier: CA498040298

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027513-C-A
• MyVariant Identifiers: chr17:g.15930827C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027513C>A , CM000679.2:g.16027513C>A	GRCh38
NC_000017.10:g.15930827C>A , CM000679.1:g.15930827C>A	GRCh37
NC_000017.9:g.15871552C>A	NCBI36
NG_029806.1:g.33134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1134C>A MANE Select	ENSP00000261647.5:p.Val378=
ENST00000261647.9:c.1134C>A	ENSP00000261647.5:p.Val378=
ENST00000465567.1:n.1528C>A
ENST00000470649.1:c.247+811C>A	ENSP00000465627.1:n.247+811C>A
ENST00000475723.5:c.1318C>A
ENST00000481107.1:n.1802C>A
ENST00000497842.6:n.1338C>A
NM_001271420.1:c.813C>A	NP_001258349.1:p.Val271=
NM_017775.3:c.1134C>A	NP_060245.3:p.Val378=
XM_017024801.2:c.994+811C>A	XP_016880290.2:n.994+811C>A
XM_017024802.2:c.994+811C>A	XP_016880291.2:n.994+811C>A
NM_017775.4:c.1134C>A MANE Select	NP_060245.3:p.Val378=
NM_001271420.2:c.813C>A	NP_001258349.1:p.Val271=