Canonical Allele Identifier: CA360838885
Community Standard Title: NM_005340.7(HINT1):c.119C>G (p.Ala40Gly)
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131162669G>C , CM000667.2:g.131162669G>C GRCh38
NC_000005.9:g.130498362G>C , CM000667.1:g.130498362G>C GRCh37
NC_000005.8:g.130526261G>C NCBI36
NG_032998.1:g.7680C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.119C>G MANE Select NP_005331.1:p.Ala40Gly
ENST00000304043.10:c.119C>G MANE Select ENSP00000304229.5:p.Ala40Gly
NM_005340.6:c.119C>G NP_005331.1:p.Ala40Gly
NR_024610.2:n.262C>G
NR_024610.3:n.170C>G
NR_024611.2:n.297C>G
NR_024611.3:n.205C>G
NR_073488.1:n.297C>G
NR_073488.2:n.205C>G
NR_134494.1:n.262C>G
NR_134494.2:n.170C>G
NR_134495.1:n.262C>G
NR_134495.2:n.170C>G
ENST00000304043.9:c.119C>G ENSP00000304229.5:p.Ala40Gly
ENST00000504202.1:c.154C>G ENSP00000425260.1:p.Leu52Val
ENST00000506207.1:n.138C>G
ENST00000506207.2:n.244C>G
ENST00000506908.1:c.119C>G ENSP00000426860.1:p.Ala40Gly
ENST00000506908.2:c.119C>G ENSP00000426860.1:p.Ala40Gly
ENST00000508488.1:c.119C>G ENSP00000427499.1:p.Ala40Gly
ENST00000508488.2:c.119C>G ENSP00000427499.1:p.Ala40Gly
ENST00000508495.5:c.119C>G ENSP00000424974.1:p.Ala40Gly
ENST00000511475.5:c.119C>G ENSP00000427008.1:p.Ala40Gly
ENST00000511475.6:c.119C>G ENSP00000427008.1:p.Ala40Gly
ENST00000513012.1:c.154C>G ENSP00000422444.1:p.Leu52Val
ENST00000513012.2:c.154C>G ENSP00000422444.1:p.Leu52Val
ENST00000513345.5:c.154C>G ENSP00000421608.1:p.Leu52Val
ENST00000513345.6:c.154C>G ENSP00000421608.1:p.Leu52Val
ENST00000520028.2:c.119C>G ENSP00000430909.2:p.Ala40Gly
ENST00000675100.1:c.119C>G ENSP00000502350.1:p.Ala40Gly
ENST00000675135.1:n.478C>G
ENST00000675372.1:c.154C>G ENSP00000502792.1:p.Leu52Val
ENST00000675491.1:c.119C>G ENSP00000502370.1:p.Ala40Gly
ENST00000676117.1:n.200C>G
XM_011543356.1:c.119C>G XP_011541658.1:p.Ala40Gly