Canonical Allele Identifier: CA2636262416

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027640-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027640C>A , CM000679.2:g.16027640C>A	GRCh38
NC_000017.10:g.15930954C>A , CM000679.1:g.15930954C>A	GRCh37
NC_000017.9:g.15871679C>A	NCBI36
NG_029806.1:g.33261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*118C>A MANE Select	ENSP00000261647.5:n.*118C>A
ENST00000261647.9:c.*118C>A	ENSP00000261647.5:n.*118C>A
ENST00000465567.1:n.1655C>A
ENST00000470649.1:c.247+938C>A	ENSP00000465627.1:n.247+938C>A
ENST00000475723.5:c.1445C>A
ENST00000481107.1:n.1929C>A
NM_001271420.1:c.*118C>A	NP_001258349.1:n.*118C>A
NM_017775.3:c.*118C>A	NP_060245.3:n.*118C>A
XM_017024801.2:c.994+938C>A	XP_016880290.2:n.994+938C>A
XM_017024802.2:c.994+938C>A	XP_016880291.2:n.994+938C>A
NM_017775.4:c.*118C>A MANE Select	NP_060245.3:n.*118C>A
NM_001271420.2:c.*118C>A	NP_001258349.1:n.*118C>A