Canonical Allele Identifier: CA726464245
Gene: TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs1330641636
gnomAD v3: 17-16028562-G-A
gnomAD v4: 17-16028562-G-A
MyVariant Identifiers: chr17:g.15931876G>A (hg19) chr17:g.16028562G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028562G>A , CM000679.2:g.16028562G>A GRCh38
NC_000017.10:g.15931876G>A , CM000679.1:g.15931876G>A GRCh37
NC_000017.9:g.15872601G>A NCBI36
NG_029806.1:g.34183G>A
NG_047111.1:g.193185C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1040G>A MANE Select ENSP00000261647.5:n.*1040G>A
ENST00000261647.9:c.*1040G>A ENSP00000261647.5:n.*1040G>A
ENST00000465567.1:n.2577G>A
ENST00000470649.1:c.247+1860G>A ENSP00000465627.1:n.247+1860G>A
ENST00000475723.5:c.2367G>A
ENST00000481107.1:n.2851G>A
NM_001271420.1:c.*1040G>A NP_001258349.1:n.*1040G>A
NM_017775.3:c.*1040G>A NP_060245.3:n.*1040G>A
XM_017024801.2:c.994+1860G>A XP_016880290.2:n.994+1860G>A
XM_017024802.2:c.994+1860G>A XP_016880291.2:n.994+1860G>A
NM_017775.4:c.*1040G>A MANE Select NP_060245.3:n.*1040G>A
NM_001271420.2:c.*1040G>A NP_001258349.1:n.*1040G>A
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