Canonical Allele Identifier: CA398382116

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1492273
• ClinVar RCV Id: RCV001980833 ; RCV003348729
• dbSNP Id: rs1970661570
• gnomAD v3: 17-15999897-G-A
• gnomAD v4: 17-15999897-G-A
• MyVariant Identifiers: chr17:g.15903211G>A (hg19) ; chr17:g.15999897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999897G>A , CM000679.2:g.15999897G>A	GRCh38
NC_000017.10:g.15903211G>A , CM000679.1:g.15903211G>A	GRCh37
NC_000017.9:g.15843936G>A	NCBI36
NG_029806.1:g.5518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.49G>A MANE Select	ENSP00000261647.5:p.Ala17Thr
ENST00000261647.9:c.49G>A	ENSP00000261647.5:p.Ala17Thr
ENST00000466729.5:c.114G>A
ENST00000470399.1:c.64G>A	ENSP00000465082.1:p.Ala22Thr
ENST00000475723.5:c.96G>A
ENST00000497842.6:n.74G>A
ENST00000583704.1:n.74G>A
NM_001271420.1:c.-410G>A	NP_001258349.1:n.-410G>A
NM_017775.3:c.49G>A	NP_060245.3:p.Ala17Thr
XM_011523950.1:c.49G>A	XP_011522252.1:p.Ala17Thr
XM_017024801.2:c.49G>A	XP_016880290.2:p.Ala17Thr
XM_017024802.2:c.49G>A	XP_016880291.2:p.Ala17Thr
XM_024450814.1:c.49G>A	XP_024306582.1:p.Ala17Thr
NM_017775.4:c.49G>A MANE Select	NP_060245.3:p.Ala17Thr
NM_001271420.2:c.-410G>A	NP_001258349.1:n.-410G>A