Canonical Allele Identifier: CA8407320

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16001966G>A , CM000679.2:g.16001966G>A	GRCh38
NC_000017.10:g.15905280G>A , CM000679.1:g.15905280G>A	GRCh37
NC_000017.9:g.15846005G>A	NCBI36
NG_029806.1:g.7587G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017775.4:c.364G>A MANE Select	NP_060245.3:p.Ala122Thr
ENST00000261647.10:c.364G>A MANE Select	ENSP00000261647.5:p.Ala122Thr
NM_001271420.1:c.43G>A	NP_001258349.1:p.Ala15Thr
NM_001271420.2:c.43G>A	NP_001258349.1:p.Ala15Thr
NM_017775.3:c.364G>A	NP_060245.3:p.Ala122Thr
ENST00000261647.9:c.364G>A	ENSP00000261647.5:p.Ala122Thr
ENST00000466729.5:c.566G>A
ENST00000470399.1:c.379G>A	ENSP00000465082.1:p.Ala127Thr
ENST00000475723.5:c.548G>A
ENST00000497842.6:n.474G>A
XM_011523950.1:c.364G>A	XP_011522252.1:p.Ala122Thr
XM_017024801.2:c.364G>A	XP_016880290.2:p.Ala122Thr
XM_017024802.2:c.364G>A	XP_016880291.2:p.Ala122Thr
XM_024450814.1:c.364G>A	XP_024306582.1:p.Ala122Thr