Canonical Allele Identifier: CA2249814902
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 3037618
ClinVar RCV Id: RCV003917012
dbSNP Id: rs1043068170
gnomAD v4: 17-15999799-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999799G>T , CM000679.2:g.15999799G>T GRCh38
NC_000017.10:g.15903113G>T , CM000679.1:g.15903113G>T GRCh37
NC_000017.9:g.15843838G>T NCBI36
NG_029806.1:g.5420G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.9:c.-50G>T ENSP00000261647.5:n.-50G>T
ENST00000466729.5:c.16G>T
NM_001271420.1:c.-508G>T NP_001258349.1:n.-508G>T
NM_017775.3:c.-50G>T NP_060245.3:n.-50G>T
XM_011523950.1:c.-50G>T XP_011522252.1:n.-50G>T
XM_017024801.2:c.-50G>T XP_016880290.2:n.-50G>T
XM_017024802.2:c.-50G>T XP_016880291.2:n.-50G>T
XM_024450814.1:c.-50G>T XP_024306582.1:n.-50G>T
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