Canonical Allele Identifier: CA8407689

Gene: TTC19

Linked Data

• dbSNP Id: rs772678363
• ExAC: 17:15932067 G / A
• gnomAD v2: 17-15932067-G-A
• MyVariant Identifiers: chr17:g.15932067G>A (hg19) ; chr17:g.16028753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028753G>A , CM000679.2:g.16028753G>A	GRCh38
NC_000017.10:g.15932067G>A , CM000679.1:g.15932067G>A	GRCh37
NC_000017.9:g.15872792G>A	NCBI36
NG_029806.1:g.34374G>A
NG_047111.1:g.192994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*1231G>A MANE Select	ENSP00000261647.5:n.*1231G>A
ENST00000261647.9:c.*1231G>A	ENSP00000261647.5:n.*1231G>A
ENST00000465567.1:n.2768G>A
ENST00000470649.1:c.247+2051G>A	ENSP00000465627.1:n.247+2051G>A
ENST00000475723.5:c.2558G>A
ENST00000481107.1:n.3042G>A
NM_001271420.1:c.*1231G>A	NP_001258349.1:n.*1231G>A
NM_017775.3:c.*1231G>A	NP_060245.3:n.*1231G>A
XM_017024801.2:c.994+2051G>A	XP_016880290.2:n.994+2051G>A
XM_017024802.2:c.994+2051G>A	XP_016880291.2:n.994+2051G>A
NM_017775.4:c.*1231G>A MANE Select	NP_060245.3:n.*1231G>A
NM_001271420.2:c.*1231G>A	NP_001258349.1:n.*1231G>A