Canonical Allele Identifier: CA288187803
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2528439
ClinVar RCV Id: RCV003275266
dbSNP Id: rs1043068170
gnomAD v2: 17-15903113-G-C
gnomAD v3: 17-15999799-G-C
gnomAD v4: 17-15999799-G-C
MyVariant Identifiers: chr17:g.15903113G>C (hg19) chr17:g.15999799G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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