Canonical Allele Identifier: CA3398616
Community Standard Title: NM_005340.7(HINT1):c.148A>G (p.Thr50Ala)
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131162640T>C , CM000667.2:g.131162640T>C GRCh38
NC_000005.9:g.130498333T>C , CM000667.1:g.130498333T>C GRCh37
NC_000005.8:g.130526232T>C NCBI36
NG_032998.1:g.7709A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.148A>G MANE Select NP_005331.1:p.Thr50Ala
ENST00000304043.10:c.148A>G MANE Select ENSP00000304229.5:p.Thr50Ala
NM_005340.6:c.148A>G NP_005331.1:p.Thr50Ala
NR_024610.2:n.291A>G
NR_024610.3:n.199A>G
NR_024611.2:n.326A>G
NR_024611.3:n.234A>G
NR_073488.1:n.326A>G
NR_073488.2:n.234A>G
NR_134494.1:n.291A>G
NR_134494.2:n.199A>G
NR_134495.1:n.291A>G
NR_134495.2:n.199A>G
ENST00000304043.9:c.148A>G ENSP00000304229.5:p.Thr50Ala
ENST00000504202.1:c.183A>G ENSP00000425260.1:p.Gln61=
ENST00000506207.1:n.167A>G
ENST00000506207.2:n.273A>G
ENST00000506908.1:c.148A>G ENSP00000426860.1:p.Thr50Ala
ENST00000506908.2:c.148A>G ENSP00000426860.1:p.Thr50Ala
ENST00000508488.1:c.148A>G ENSP00000427499.1:p.Thr50Ala
ENST00000508488.2:c.148A>G ENSP00000427499.1:p.Thr50Ala
ENST00000508495.5:c.148A>G ENSP00000424974.1:p.Thr50Ala
ENST00000511475.5:c.148A>G ENSP00000427008.1:p.Thr50Ala
ENST00000511475.6:c.148A>G ENSP00000427008.1:p.Thr50Ala
ENST00000513012.1:c.183A>G ENSP00000422444.1:p.Gln61=
ENST00000513012.2:c.183A>G ENSP00000422444.1:p.Gln61=
ENST00000513345.5:c.183A>G ENSP00000421608.1:p.Gln61=
ENST00000513345.6:c.183A>G ENSP00000421608.1:p.Gln61=
ENST00000520028.2:c.148A>G ENSP00000430909.2:p.Thr50Ala
ENST00000675100.1:c.148A>G ENSP00000502350.1:p.Thr50Ala
ENST00000675135.1:n.507A>G
ENST00000675372.1:c.183A>G ENSP00000502792.1:p.Gln61=
ENST00000675491.1:c.148A>G ENSP00000502370.1:p.Thr50Ala
ENST00000676117.1:n.229A>G
XM_011543356.1:c.148A>G XP_011541658.1:p.Thr50Ala