Canonical Allele Identifier: CA2636262427

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027658-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027658G>A , CM000679.2:g.16027658G>A	GRCh38
NC_000017.10:g.15930972G>A , CM000679.1:g.15930972G>A	GRCh37
NC_000017.9:g.15871697G>A	NCBI36
NG_029806.1:g.33279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*136G>A MANE Select	ENSP00000261647.5:n.*136G>A
ENST00000261647.9:c.*136G>A	ENSP00000261647.5:n.*136G>A
ENST00000465567.1:n.1673G>A
ENST00000470649.1:c.247+956G>A	ENSP00000465627.1:n.247+956G>A
ENST00000475723.5:c.1463G>A
ENST00000481107.1:n.1947G>A
NM_001271420.1:c.*136G>A	NP_001258349.1:n.*136G>A
NM_017775.3:c.*136G>A	NP_060245.3:n.*136G>A
XM_017024801.2:c.994+956G>A	XP_016880290.2:n.994+956G>A
XM_017024802.2:c.994+956G>A	XP_016880291.2:n.994+956G>A
NM_017775.4:c.*136G>A MANE Select	NP_060245.3:n.*136G>A
NM_001271420.2:c.*136G>A	NP_001258349.1:n.*136G>A