Canonical Allele Identifier: CA360838279

Gene: HINT1

Linked Data

• MyVariant Identifiers: chr5:g.130495268C>A (hg19) ; chr5:g.131159575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.131159575C>A , CM000667.2:g.131159575C>A	GRCh38
NC_000005.9:g.130495268C>A , CM000667.1:g.130495268C>A	GRCh37
NC_000005.8:g.130523167C>A	NCBI36
NG_032998.1:g.10774G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304043.10:c.253G>T MANE Select	ENSP00000304229.5:p.Ala85Ser
ENST00000506207.2:n.378G>T
ENST00000506908.2:c.*2976G>T	ENSP00000426860.1:n.*2976G>T
ENST00000508488.2:c.*355G>T	ENSP00000427499.1:n.*355G>T
ENST00000511475.6:c.*286G>T	ENSP00000427008.1:n.*286G>T
ENST00000513012.2:c.*3050G>T	ENSP00000422444.1:n.*3050G>T
ENST00000513345.6:c.*539G>T	ENSP00000421608.1:n.*539G>T
ENST00000520028.2:c.*452G>T	ENSP00000430909.2:n.*452G>T
ENST00000675100.1:c.216+2997G>T	ENSP00000502350.1:n.216+2997G>T
ENST00000675135.1:n.612G>T
ENST00000675372.1:c.*90G>T	ENSP00000502792.1:n.*90G>T
ENST00000675491.1:c.*2807G>T	ENSP00000502370.1:n.*2807G>T
ENST00000676117.1:n.705G>T
ENST00000304043.9:c.253G>T	ENSP00000304229.5:p.Ala85Ser
ENST00000506207.1:n.272G>T
ENST00000508495.5:c.*205G>T	ENSP00000424974.1:n.*205G>T
ENST00000511475.5:c.*286G>T	ENSP00000427008.1:n.*286G>T
ENST00000513345.5:c.*90G>T	ENSP00000421608.1:n.*90G>T
NM_005340.6:c.253G>T	NP_005331.1:p.Ala85Ser
NR_024610.2:n.585G>T
NR_024611.2:n.431G>T
NR_073488.1:n.776G>T
NR_134494.1:n.741G>T
NR_134495.1:n.845G>T
NM_005340.7:c.253G>T MANE Select	NP_005331.1:p.Ala85Ser
NR_024610.3:n.493G>T
NR_024611.3:n.339G>T
NR_073488.2:n.684G>T
NR_134494.2:n.649G>T
NR_134495.2:n.753G>T