Canonical Allele Identifier: CA3398610

Gene: HINT1

Linked Data

• ClinVar Variation Id: 246535
• ClinVar RCV Id: RCV000236287 ; RCV000549355 ; RCV002418049
• dbSNP Id: rs371048016
• ExAC: 5:130498278 T / A
• gnomAD v2: 5-130498278-T-A
• gnomAD v3: 5-131162585-T-A
• gnomAD v4: 5-131162585-T-A
• MyVariant Identifiers: chr5:g.130498278T>A (hg19) ; chr5:g.131162585T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131162585T>A , CM000667.2:g.131162585T>A	GRCh38
NC_000005.9:g.130498278T>A , CM000667.1:g.130498278T>A	GRCh37
NC_000005.8:g.130526177T>A	NCBI36
NG_032998.1:g.7764A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304043.10:c.203A>T MANE Select	ENSP00000304229.5:p.Asp68Val
ENST00000506207.2:n.328A>T
ENST00000506908.2:c.203A>T	ENSP00000426860.1:p.Asp68Val
ENST00000508488.2:c.203A>T	ENSP00000427499.1:p.Asp68Val
ENST00000511475.6:c.203A>T	ENSP00000427008.1:p.Asp68Val
ENST00000513012.2:c.*40A>T	ENSP00000422444.1:n.*40A>T
ENST00000513345.6:c.*40A>T	ENSP00000421608.1:n.*40A>T
ENST00000520028.2:c.203A>T	ENSP00000430909.2:p.Asp68Val
ENST00000675100.1:c.203A>T	ENSP00000502350.1:p.Asp68Val
ENST00000675135.1:n.562A>T
ENST00000675372.1:c.*40A>T	ENSP00000502792.1:n.*40A>T
ENST00000675491.1:c.203A>T	ENSP00000502370.1:p.Asp68Val
ENST00000676117.1:n.284A>T
ENST00000304043.9:c.203A>T	ENSP00000304229.5:p.Asp68Val
ENST00000504202.1:c.*40A>T	ENSP00000425260.1:n.*40A>T
ENST00000506207.1:n.222A>T
ENST00000506908.1:c.203A>T	ENSP00000426860.1:p.Asp68Val
ENST00000508488.1:c.203A>T	ENSP00000427499.1:p.Asp68Val
ENST00000508495.5:c.203A>T	ENSP00000424974.1:p.Asp68Val
ENST00000511475.5:c.203A>T	ENSP00000427008.1:p.Asp68Val
ENST00000513012.1:c.*40A>T	ENSP00000422444.1:n.*40A>T
ENST00000513345.5:c.*40A>T	ENSP00000421608.1:n.*40A>T
ENST00000520028.1:c.43A>T
NM_005340.6:c.203A>T	NP_005331.1:p.Asp68Val
NR_024610.2:n.346A>T
NR_024611.2:n.381A>T
NR_073488.1:n.381A>T
XM_011543356.1:c.203A>T	XP_011541658.1:p.Asp68Val
NR_134494.1:n.346A>T
NR_134495.1:n.346A>T
NM_005340.7:c.203A>T MANE Select	NP_005331.1:p.Asp68Val
NR_024610.3:n.254A>T
NR_024611.3:n.289A>T
NR_073488.2:n.289A>T
NR_134494.2:n.254A>T
NR_134495.2:n.254A>T