Canonical Allele Identifier: CA8407679
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 321965
ClinVar RCV Id: RCV000377059
dbSNP Id: rs73981414
ExAC: 17:15931807 G / A
gnomAD v2: 17-15931807-G-A
gnomAD v3: 17-16028493-G-A
gnomAD v4: 17-16028493-G-A
MyVariant Identifiers: chr17:g.15931807G>A (hg19) chr17:g.16028493G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028493G>A , CM000679.2:g.16028493G>A GRCh38
NC_000017.10:g.15931807G>A , CM000679.1:g.15931807G>A GRCh37
NC_000017.9:g.15872532G>A NCBI36
NG_029806.1:g.34114G>A
NG_047111.1:g.193254C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*971G>A MANE Select ENSP00000261647.5:n.*971G>A
ENST00000261647.9:c.*971G>A ENSP00000261647.5:n.*971G>A
ENST00000465567.1:n.2508G>A
ENST00000470649.1:c.247+1791G>A ENSP00000465627.1:n.247+1791G>A
ENST00000475723.5:c.2298G>A
ENST00000481107.1:n.2782G>A
NM_001271420.1:c.*971G>A NP_001258349.1:n.*971G>A
NM_017775.3:c.*971G>A NP_060245.3:n.*971G>A
XM_017024801.2:c.994+1791G>A XP_016880290.2:n.994+1791G>A
XM_017024802.2:c.994+1791G>A XP_016880291.2:n.994+1791G>A
NM_017775.4:c.*971G>A MANE Select NP_060245.3:n.*971G>A
NM_001271420.2:c.*971G>A NP_001258349.1:n.*971G>A
Search 100 bp 5'
Search 100 bp 3'