Canonical Allele Identifier: CA2808599787

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028514G>T , CM000679.2:g.16028514G>T	GRCh38
NC_000017.10:g.15931828G>T , CM000679.1:g.15931828G>T	GRCh37
NC_000017.9:g.15872553G>T	NCBI36
NG_029806.1:g.34135G>T
NG_047111.1:g.193233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*992G>T MANE Select	ENSP00000261647.5:n.*992G>T
ENST00000261647.9:c.*992G>T	ENSP00000261647.5:n.*992G>T
ENST00000465567.1:n.2529G>T
ENST00000470649.1:c.247+1812G>T	ENSP00000465627.1:n.247+1812G>T
ENST00000475723.5:c.2319G>T
ENST00000481107.1:n.2803G>T
NM_001271420.1:c.*992G>T	NP_001258349.1:n.*992G>T
NM_017775.3:c.*992G>T	NP_060245.3:n.*992G>T
XM_017024801.2:c.994+1812G>T	XP_016880290.2:n.994+1812G>T
XM_017024802.2:c.994+1812G>T	XP_016880291.2:n.994+1812G>T
NM_017775.4:c.*992G>T MANE Select	NP_060245.3:n.*992G>T
NM_001271420.2:c.*992G>T	NP_001258349.1:n.*992G>T