Canonical Allele Identifier: CA130162

Gene: HINT1

Linked Data

• ClinVar Variation Id: 37316
• ClinVar RCV Id: RCV000030856
• dbSNP Id: rs397514491
• gnomAD v2: 5-130498329-T-C
• gnomAD v4: 5-131162636-T-C
• MyVariant Identifiers: chr5:g.130498329T>C (hg19) ; chr5:g.131162636T>C (hg38)
• PubMed: PMID:22961002

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131162636T>C , CM000667.2:g.131162636T>C	GRCh38
NC_000005.9:g.130498329T>C , CM000667.1:g.130498329T>C	GRCh37
NC_000005.8:g.130526228T>C	NCBI36
NG_032998.1:g.7713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304043.10:c.152A>G MANE Select	ENSP00000304229.5:p.His51Arg
ENST00000506207.2:n.277A>G
ENST00000506908.2:c.152A>G	ENSP00000426860.1:p.His51Arg
ENST00000508488.2:c.152A>G	ENSP00000427499.1:p.His51Arg
ENST00000511475.6:c.152A>G	ENSP00000427008.1:p.His51Arg
ENST00000513012.2:c.187A>G	ENSP00000422444.1:p.Ile63Val
ENST00000513345.6:c.187A>G	ENSP00000421608.1:p.Ile63Val
ENST00000520028.2:c.152A>G	ENSP00000430909.2:p.His51Arg
ENST00000675100.1:c.152A>G	ENSP00000502350.1:p.His51Arg
ENST00000675135.1:n.511A>G
ENST00000675372.1:c.187A>G	ENSP00000502792.1:p.Ile63Val
ENST00000675491.1:c.152A>G	ENSP00000502370.1:p.His51Arg
ENST00000676117.1:n.233A>G
ENST00000304043.9:c.152A>G	ENSP00000304229.5:p.His51Arg
ENST00000504202.1:c.187A>G	ENSP00000425260.1:p.Ile63Val
ENST00000506207.1:n.171A>G
ENST00000506908.1:c.152A>G	ENSP00000426860.1:p.His51Arg
ENST00000508488.1:c.152A>G	ENSP00000427499.1:p.His51Arg
ENST00000508495.5:c.152A>G	ENSP00000424974.1:p.His51Arg
ENST00000511475.5:c.152A>G	ENSP00000427008.1:p.His51Arg
ENST00000513012.1:c.187A>G	ENSP00000422444.1:p.Ile63Val
ENST00000513345.5:c.187A>G	ENSP00000421608.1:p.Ile63Val
NM_005340.6:c.152A>G	NP_005331.1:p.His51Arg
NR_024610.2:n.295A>G
NR_024611.2:n.330A>G
NR_073488.1:n.330A>G
XM_011543356.1:c.152A>G	XP_011541658.1:p.His51Arg
NR_134494.1:n.295A>G
NR_134495.1:n.295A>G
NM_005340.7:c.152A>G MANE Select	NP_005331.1:p.His51Arg
NR_024610.3:n.203A>G
NR_024611.3:n.238A>G
NR_073488.2:n.238A>G
NR_134494.2:n.203A>G
NR_134495.2:n.203A>G