Canonical Allele Identifier: CA398387173

Gene: TTC19

Linked Data

• dbSNP Id: rs387907094
• MyVariant Identifiers: chr17:g.15907199C>G (hg19) ; chr17:g.16003885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16003885C>G , CM000679.2:g.16003885C>G	GRCh38
NC_000017.10:g.15907199C>G , CM000679.1:g.15907199C>G	GRCh37
NC_000017.9:g.15847924C>G	NCBI36
NG_029806.1:g.9506C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.517C>G MANE Select	ENSP00000261647.5:p.Gln173Glu
ENST00000261647.9:c.517C>G	ENSP00000261647.5:p.Gln173Glu
ENST00000466729.5:c.855C>G
ENST00000475723.5:c.701C>G
ENST00000497842.6:n.627C>G
NM_001271420.1:c.196C>G	NP_001258349.1:p.Gln66Glu
NM_017775.3:c.517C>G	NP_060245.3:p.Gln173Glu
XM_011523950.1:c.517C>G	XP_011522252.1:p.Gln173Glu
XR_934261.1:n.2623-383G>C
XM_017024801.2:c.517C>G	XP_016880290.2:p.Gln173Glu
XM_017024802.2:c.517C>G	XP_016880291.2:p.Gln173Glu
XM_024450814.1:c.517C>G	XP_024306582.1:p.Gln173Glu
NM_017775.4:c.517C>G MANE Select	NP_060245.3:p.Gln173Glu
NM_001271420.2:c.196C>G	NP_001258349.1:p.Gln66Glu