Canonical Allele Identifier: CA2636262422

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027649-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027649C>T , CM000679.2:g.16027649C>T	GRCh38
NC_000017.10:g.15930963C>T , CM000679.1:g.15930963C>T	GRCh37
NC_000017.9:g.15871688C>T	NCBI36
NG_029806.1:g.33270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*127C>T MANE Select	ENSP00000261647.5:n.*127C>T
ENST00000261647.9:c.*127C>T	ENSP00000261647.5:n.*127C>T
ENST00000465567.1:n.1664C>T
ENST00000470649.1:c.247+947C>T	ENSP00000465627.1:n.247+947C>T
ENST00000475723.5:c.1454C>T
ENST00000481107.1:n.1938C>T
NM_001271420.1:c.*127C>T	NP_001258349.1:n.*127C>T
NM_017775.3:c.*127C>T	NP_060245.3:n.*127C>T
XM_017024801.2:c.994+947C>T	XP_016880290.2:n.994+947C>T
XM_017024802.2:c.994+947C>T	XP_016880291.2:n.994+947C>T
NM_017775.4:c.*127C>T MANE Select	NP_060245.3:n.*127C>T
NM_001271420.2:c.*127C>T	NP_001258349.1:n.*127C>T