Canonical Allele Identifier: CA2581296546

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028534T>G , CM000679.2:g.16028534T>G	GRCh38
NC_000017.10:g.15931848T>G , CM000679.1:g.15931848T>G	GRCh37
NC_000017.9:g.15872573T>G	NCBI36
NG_029806.1:g.34155T>G
NG_047111.1:g.193213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1012T>G MANE Select	ENSP00000261647.5:n.*1012T>G
ENST00000261647.9:c.*1012T>G	ENSP00000261647.5:n.*1012T>G
ENST00000465567.1:n.2549T>G
ENST00000470649.1:c.247+1832T>G	ENSP00000465627.1:n.247+1832T>G
ENST00000475723.5:c.2339T>G
ENST00000481107.1:n.2823T>G
NM_001271420.1:c.*1012T>G	NP_001258349.1:n.*1012T>G
NM_017775.3:c.*1012T>G	NP_060245.3:n.*1012T>G
XM_017024801.2:c.994+1832T>G	XP_016880290.2:n.994+1832T>G
XM_017024802.2:c.994+1832T>G	XP_016880291.2:n.994+1832T>G
NM_017775.4:c.*1012T>G MANE Select	NP_060245.3:n.*1012T>G
NM_001271420.2:c.*1012T>G	NP_001258349.1:n.*1012T>G