Canonical Allele Identifier: CA3302540
Gene: TMEM171 HGNC NCBI
ClinVar RCV:
RCV004282599
ClinVar Variation:
2512422
dbSNP:
200749298
gnomAD v2:
5:72419321 A / T
gnomAD v3:
5:73123494 A / T
gnomAD v4:
chr5-73123494-A-T
Joint Max Group AF 0.00058978 (AFR)
Genomes Max Group AF 0.00060171 (AFR)
Exomes Max Group AF 0.00044389 (AFR)
MyVariant.info:
GRCh38 chr5:g.73123494A>T
GRCh37 chr5:g.72419321A>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.73123494A>T , CM000667.2:g.73123494A>T GRCh38
NC_000005.9:g.72419321A>T , CM000667.1:g.72419321A>T GRCh37
NC_000005.8:g.72455077A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454765.7:c.121A>T MANE Select ENSP00000415030.2:p.Ile41Phe
ENST00000287773.5:c.121A>T ENSP00000287773.5:p.Ile41Phe
ENST00000454765.6:c.121A>T ENSP00000415030.2:p.Ile41Phe
NM_001161342.2:c.121A>T NP_001154814.1:p.Ile41Phe
NM_173490.7:c.121A>T NP_775761.4:p.Ile41Phe
XM_011543156.1:c.121A>T XP_011541458.1:p.Ile41Phe
XM_011543157.1:c.121A>T XP_011541459.1:p.Ile41Phe
NM_173490.8:c.121A>T MANE Select NP_775761.4:p.Ile41Phe
NM_001161342.3:c.121A>T NP_001154814.1:p.Ile41Phe
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