Canonical Allele Identifier: CA398382370

Gene: TTC19

Linked Data

• ClinVar Variation Id: 2008654
• ClinVar RCV Id: RCV002816647
• gnomAD v4: 17-15999948-G-A
• MyVariant Identifiers: chr17:g.15903262G>A (hg19) ; chr17:g.15999948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999948G>A , CM000679.2:g.15999948G>A	GRCh38
NC_000017.10:g.15903262G>A , CM000679.1:g.15903262G>A	GRCh37
NC_000017.9:g.15843987G>A	NCBI36
NG_029806.1:g.5569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.100G>A MANE Select	ENSP00000261647.5:p.Gly34Arg
ENST00000261647.9:c.100G>A	ENSP00000261647.5:p.Gly34Arg
ENST00000466729.5:c.165G>A
ENST00000470399.1:c.115G>A	ENSP00000465082.1:p.Gly39Arg
ENST00000475723.5:c.147G>A
ENST00000497842.6:n.125G>A
ENST00000583704.1:n.125G>A
NM_001271420.1:c.-359G>A	NP_001258349.1:n.-359G>A
NM_017775.3:c.100G>A	NP_060245.3:p.Gly34Arg
XM_011523950.1:c.100G>A	XP_011522252.1:p.Gly34Arg
XM_017024801.2:c.100G>A	XP_016880290.2:p.Gly34Arg
XM_017024802.2:c.100G>A	XP_016880291.2:p.Gly34Arg
XM_024450814.1:c.100G>A	XP_024306582.1:p.Gly34Arg
NM_017775.4:c.100G>A MANE Select	NP_060245.3:p.Gly34Arg
NM_001271420.2:c.-359G>A	NP_001258349.1:n.-359G>A