Canonical Allele Identifier: CA398382717

Gene: TTC19

Linked Data

• dbSNP Id: rs1970666630
• MyVariant Identifiers: chr17:g.15903337C>G (hg19) ; chr17:g.16000023C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000023C>G , CM000679.2:g.16000023C>G	GRCh38
NC_000017.10:g.15903337C>G , CM000679.1:g.15903337C>G	GRCh37
NC_000017.9:g.15844062C>G	NCBI36
NG_029806.1:g.5644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.175C>G MANE Select	ENSP00000261647.5:p.Leu59Val
ENST00000261647.9:c.175C>G	ENSP00000261647.5:p.Leu59Val
ENST00000466729.5:c.240C>G
ENST00000470399.1:c.190C>G	ENSP00000465082.1:p.Leu64Val
ENST00000475723.5:c.222C>G
ENST00000497842.6:n.200C>G
ENST00000583704.1:n.200C>G
NM_001271420.1:c.-284C>G	NP_001258349.1:n.-284C>G
NM_017775.3:c.175C>G	NP_060245.3:p.Leu59Val
XM_011523950.1:c.175C>G	XP_011522252.1:p.Leu59Val
XM_017024801.2:c.175C>G	XP_016880290.2:p.Leu59Val
XM_017024802.2:c.175C>G	XP_016880291.2:p.Leu59Val
XM_024450814.1:c.175C>G	XP_024306582.1:p.Leu59Val
NM_017775.4:c.175C>G MANE Select	NP_060245.3:p.Leu59Val
NM_001271420.2:c.-284C>G	NP_001258349.1:n.-284C>G