Canonical Allele Identifier: CA2636262986

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028649-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028649C>A , CM000679.2:g.16028649C>A	GRCh38
NC_000017.10:g.15931963C>A , CM000679.1:g.15931963C>A	GRCh37
NC_000017.9:g.15872688C>A	NCBI36
NG_029806.1:g.34270C>A
NG_047111.1:g.193098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1127C>A MANE Select	ENSP00000261647.5:n.*1127C>A
ENST00000261647.9:c.*1127C>A	ENSP00000261647.5:n.*1127C>A
ENST00000465567.1:n.2664C>A
ENST00000470649.1:c.247+1947C>A	ENSP00000465627.1:n.247+1947C>A
ENST00000475723.5:c.2454C>A
ENST00000481107.1:n.2938C>A
NM_001271420.1:c.*1127C>A	NP_001258349.1:n.*1127C>A
NM_017775.3:c.*1127C>A	NP_060245.3:n.*1127C>A
XM_017024801.2:c.994+1947C>A	XP_016880290.2:n.994+1947C>A
XM_017024802.2:c.994+1947C>A	XP_016880291.2:n.994+1947C>A
NM_017775.4:c.*1127C>A MANE Select	NP_060245.3:n.*1127C>A
NM_001271420.2:c.*1127C>A	NP_001258349.1:n.*1127C>A