Canonical Allele Identifier: CA130165

Gene: HINT1

Linked Data

• ClinVar Variation Id: 37318
• ClinVar RCV Id: RCV000030858 ; RCV002433480
• dbSNP Id: rs397514493
• ExAC: 5:130495243 C / T
• gnomAD v2: 5-130495243-C-T
• gnomAD v3: 5-131159550-C-T
• gnomAD v4: 5-131159550-C-T
• MyVariant Identifiers: chr5:g.130495243C>T (hg19) ; chr5:g.131159550C>T (hg38)
• PubMed: PMID:22961002

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131159550C>T , CM000667.2:g.131159550C>T	GRCh38
NC_000005.9:g.130495243C>T , CM000667.1:g.130495243C>T	GRCh37
NC_000005.8:g.130523142C>T	NCBI36
NG_032998.1:g.10799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304043.10:c.278G>A MANE Select	ENSP00000304229.5:p.Gly93Asp
ENST00000506207.2:n.403G>A
ENST00000506908.2:c.*3001G>A	ENSP00000426860.1:n.*3001G>A
ENST00000508488.2:c.*380G>A	ENSP00000427499.1:n.*380G>A
ENST00000511475.6:c.*311G>A	ENSP00000427008.1:n.*311G>A
ENST00000513012.2:c.*3075G>A	ENSP00000422444.1:n.*3075G>A
ENST00000513345.6:c.*564G>A	ENSP00000421608.1:n.*564G>A
ENST00000520028.2:c.*477G>A	ENSP00000430909.2:n.*477G>A
ENST00000675100.1:c.216+3022G>A	ENSP00000502350.1:n.216+3022G>A
ENST00000675135.1:n.637G>A
ENST00000675372.1:c.*115G>A	ENSP00000502792.1:n.*115G>A
ENST00000675491.1:c.*2832G>A	ENSP00000502370.1:n.*2832G>A
ENST00000676117.1:n.730G>A
ENST00000304043.9:c.278G>A	ENSP00000304229.5:p.Gly93Asp
ENST00000506207.1:n.297G>A
ENST00000508495.5:c.*230G>A	ENSP00000424974.1:n.*230G>A
ENST00000511475.5:c.*311G>A	ENSP00000427008.1:n.*311G>A
ENST00000513345.5:c.*115G>A	ENSP00000421608.1:n.*115G>A
NM_005340.6:c.278G>A	NP_005331.1:p.Gly93Asp
NR_024610.2:n.610G>A
NR_024611.2:n.456G>A
NR_073488.1:n.801G>A
NR_134494.1:n.766G>A
NR_134495.1:n.870G>A
NM_005340.7:c.278G>A MANE Select	NP_005331.1:p.Gly93Asp
NR_024610.3:n.518G>A
NR_024611.3:n.364G>A
NR_073488.2:n.709G>A
NR_134494.2:n.674G>A
NR_134495.2:n.778G>A