Canonical Allele Identifier: CA2636263012

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028743-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028743C>A , CM000679.2:g.16028743C>A	GRCh38
NC_000017.10:g.15932057C>A , CM000679.1:g.15932057C>A	GRCh37
NC_000017.9:g.15872782C>A	NCBI36
NG_029806.1:g.34364C>A
NG_047111.1:g.193004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1221C>A MANE Select	ENSP00000261647.5:n.*1221C>A
ENST00000261647.9:c.*1221C>A	ENSP00000261647.5:n.*1221C>A
ENST00000465567.1:n.2758C>A
ENST00000470649.1:c.247+2041C>A	ENSP00000465627.1:n.247+2041C>A
ENST00000475723.5:c.2548C>A
ENST00000481107.1:n.3032C>A
NM_001271420.1:c.*1221C>A	NP_001258349.1:n.*1221C>A
NM_017775.3:c.*1221C>A	NP_060245.3:n.*1221C>A
XM_017024801.2:c.994+2041C>A	XP_016880290.2:n.994+2041C>A
XM_017024802.2:c.994+2041C>A	XP_016880291.2:n.994+2041C>A
NM_017775.4:c.*1221C>A MANE Select	NP_060245.3:n.*1221C>A
NM_001271420.2:c.*1221C>A	NP_001258349.1:n.*1221C>A