Canonical Allele Identifier: CA13411362
Gene: PTPN5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.18771813T>C
GRCh37 chr11:g.18793360T>C
gnomAD v2:
11:18793360 T / C
gnomAD v3:
11:18771813 T / C
gnomAD v4:
chr11-18771813-T-C
Joint Max Group AF 0.86459352 (EAS)
Genomes Max Group AF 0.85148654 (EAS)
Exomes Max Group AF 0.86393072 (EAS)
dbSNP:
4075664
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18771813T>C , CM000673.2:g.18771813T>C GRCh38
NC_000011.9:g.18793360T>C , CM000673.1:g.18793360T>C GRCh37
NC_000011.8:g.18749936T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358540.7:c.20+126A>G MANE Select ENSP00000351342.2:n.20+126A>G
ENST00000358540.6:c.20+126A>G ENSP00000351342.2:n.20+126A>G
ENST00000396168.1:c.-52-5930A>G ENSP00000379471.1:n.-52-5930A>G
ENST00000396170.5:c.20+126A>G ENSP00000379473.1:n.20+126A>G
NM_001039970.1:c.20+126A>G NP_001035059.1:n.20+126A>G
NM_001278236.1:c.20+126A>G NP_001265165.1:n.20+126A>G
NM_001278238.1:c.-52-5930A>G NP_001265167.1:n.-52-5930A>G
NM_001278239.1:c.-52-5930A>G NP_001265168.1:n.-52-5930A>G
NM_006906.1:c.20+126A>G NP_008837.1:n.20+126A>G
NM_032781.3:c.20+126A>G NP_116170.3:n.20+126A>G
XM_011520411.1:c.20+126A>G XP_011518713.1:n.20+126A>G
XM_011520411.3:c.20+126A>G XP_011518713.1:n.20+126A>G
XM_017018434.2:c.20+126A>G XP_016873923.1:n.20+126A>G
XM_017018435.2:c.20+126A>G XP_016873924.1:n.20+126A>G
XM_017018436.1:c.-52-5930A>G XP_016873925.1:n.-52-5930A>G
XM_017018437.1:c.20+126A>G XP_016873926.1:n.20+126A>G
XM_017018439.1:c.-52-5930A>G XP_016873928.1:n.-52-5930A>G
XM_017018440.2:c.20+126A>G XP_016873929.1:n.20+126A>G
XM_017018441.2:c.20+126A>G XP_016873930.1:n.20+126A>G
NM_006906.2:c.20+126A>G MANE Select NP_008837.1:n.20+126A>G
NM_001039970.2:c.20+126A>G NP_001035059.1:n.20+126A>G
NM_001278238.2:c.-52-5930A>G NP_001265167.1:n.-52-5930A>G
NM_001278239.2:c.-52-5930A>G NP_001265168.1:n.-52-5930A>G
NM_032781.4:c.20+126A>G NP_116170.3:n.20+126A>G
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