Canonical Allele Identifier: CA2636263000

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028691-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028691G>T , CM000679.2:g.16028691G>T	GRCh38
NC_000017.10:g.15932005G>T , CM000679.1:g.15932005G>T	GRCh37
NC_000017.9:g.15872730G>T	NCBI36
NG_029806.1:g.34312G>T
NG_047111.1:g.193056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1169G>T MANE Select	ENSP00000261647.5:n.*1169G>T
ENST00000261647.9:c.*1169G>T	ENSP00000261647.5:n.*1169G>T
ENST00000465567.1:n.2706G>T
ENST00000470649.1:c.247+1989G>T	ENSP00000465627.1:n.247+1989G>T
ENST00000475723.5:c.2496G>T
ENST00000481107.1:n.2980G>T
NM_001271420.1:c.*1169G>T	NP_001258349.1:n.*1169G>T
NM_017775.3:c.*1169G>T	NP_060245.3:n.*1169G>T
XM_017024801.2:c.994+1989G>T	XP_016880290.2:n.994+1989G>T
XM_017024802.2:c.994+1989G>T	XP_016880291.2:n.994+1989G>T
NM_017775.4:c.*1169G>T MANE Select	NP_060245.3:n.*1169G>T
NM_001271420.2:c.*1169G>T	NP_001258349.1:n.*1169G>T