Canonical Allele Identifier: CA2636259711

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000044-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000044G>A , CM000679.2:g.16000044G>A	GRCh38
NC_000017.10:g.15903358G>A , CM000679.1:g.15903358G>A	GRCh37
NC_000017.9:g.15844083G>A	NCBI36
NG_029806.1:g.5665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+12G>A MANE Select	ENSP00000261647.5:n.184+12G>A
ENST00000261647.9:c.184+12G>A	ENSP00000261647.5:n.184+12G>A
ENST00000466729.5:c.249+12G>A
ENST00000470399.1:c.199+12G>A	ENSP00000465082.1:n.199+12G>A
ENST00000475723.5:c.231+12G>A
ENST00000497842.6:n.221G>A
ENST00000583704.1:n.209+12G>A
NM_001271420.1:c.-275+12G>A	NP_001258349.1:n.-275+12G>A
NM_017775.3:c.184+12G>A	NP_060245.3:n.184+12G>A
XM_011523950.1:c.184+12G>A	XP_011522252.1:n.184+12G>A
XM_017024801.2:c.184+12G>A	XP_016880290.2:n.184+12G>A
XM_017024802.2:c.184+12G>A	XP_016880291.2:n.184+12G>A
XM_024450814.1:c.184+12G>A	XP_024306582.1:n.184+12G>A
NM_017775.4:c.184+12G>A MANE Select	NP_060245.3:n.184+12G>A
NM_001271420.2:c.-275+12G>A	NP_001258349.1:n.-275+12G>A