Canonical Allele Identifier: CA3398549

Gene: HINT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131159463T>A , CM000667.2:g.131159463T>A	GRCh38
NC_000005.9:g.130495156T>A , CM000667.1:g.130495156T>A	GRCh37
NC_000005.8:g.130523055T>A	NCBI36
NG_032998.1:g.10886A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005340.7:c.365A>T MANE Select	NP_005331.1:p.His122Leu
ENST00000304043.10:c.365A>T MANE Select	ENSP00000304229.5:p.His122Leu
NM_005340.6:c.365A>T	NP_005331.1:p.His122Leu
NR_024610.2:n.697A>T
NR_024610.3:n.605A>T
NR_024611.2:n.543A>T
NR_024611.3:n.451A>T
NR_073488.1:n.888A>T
NR_073488.2:n.796A>T
NR_134494.1:n.853A>T
NR_134494.2:n.761A>T
NR_134495.1:n.957A>T
NR_134495.2:n.865A>T
ENST00000304043.9:c.365A>T	ENSP00000304229.5:p.His122Leu
ENST00000506908.2:c.*3088A>T	ENSP00000426860.1:n.*3088A>T
ENST00000508488.2:c.*467A>T	ENSP00000427499.1:n.*467A>T
ENST00000508495.5:c.*317A>T	ENSP00000424974.1:n.*317A>T
ENST00000511475.5:c.*398A>T	ENSP00000427008.1:n.*398A>T
ENST00000511475.6:c.*398A>T	ENSP00000427008.1:n.*398A>T
ENST00000513012.2:c.*3162A>T	ENSP00000422444.1:n.*3162A>T
ENST00000513345.5:c.*202A>T	ENSP00000421608.1:n.*202A>T
ENST00000513345.6:c.*651A>T	ENSP00000421608.1:n.*651A>T
ENST00000520028.2:c.*564A>T	ENSP00000430909.2:n.*564A>T
ENST00000675100.1:c.216+3109A>T	ENSP00000502350.1:n.216+3109A>T
ENST00000675135.1:n.724A>T
ENST00000675372.1:c.*202A>T	ENSP00000502792.1:n.*202A>T
ENST00000675491.1:c.*2919A>T	ENSP00000502370.1:n.*2919A>T
ENST00000676117.1:n.817A>T