Canonical Allele Identifier: CA127815329
Community Standard Title: NM_005340.7(HINT1):c.111+121G>T
Gene: HINT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131164974C>A , CM000667.2:g.131164974C>A GRCh38
NC_000005.9:g.130500667C>A , CM000667.1:g.130500667C>A GRCh37
NC_000005.8:g.130528566C>A NCBI36
NG_032998.1:g.5375G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005340.7:c.111+121G>T MANE Select NP_005331.1:n.111+121G>T
ENST00000304043.10:c.111+121G>T MANE Select ENSP00000304229.5:n.111+121G>T
NM_005340.6:c.111+121G>T NP_005331.1:n.111+121G>T
NR_024610.2:n.254+121G>T
NR_024610.3:n.162+121G>T
NR_024611.2:n.289+86G>T
NR_024611.3:n.197+86G>T
NR_073488.1:n.289+86G>T
NR_073488.2:n.197+86G>T
NR_134494.1:n.254+121G>T
NR_134494.2:n.162+121G>T
NR_134495.1:n.254+121G>T
NR_134495.2:n.162+121G>T
ENST00000304043.9:c.111+121G>T ENSP00000304229.5:n.111+121G>T
ENST00000504202.1:c.146+86G>T ENSP00000425260.1:n.146+86G>T
ENST00000506207.1:n.131-2298G>T
ENST00000506207.2:n.237-2298G>T
ENST00000506908.1:c.111+121G>T ENSP00000426860.1:n.111+121G>T
ENST00000506908.2:c.111+121G>T ENSP00000426860.1:n.111+121G>T
ENST00000508488.1:c.111+121G>T ENSP00000427499.1:n.111+121G>T
ENST00000508488.2:c.111+121G>T ENSP00000427499.1:n.111+121G>T
ENST00000508495.5:c.111+121G>T ENSP00000424974.1:n.111+121G>T
ENST00000511475.5:c.111+121G>T ENSP00000427008.1:n.111+121G>T
ENST00000511475.6:c.111+121G>T ENSP00000427008.1:n.111+121G>T
ENST00000513012.1:c.146+86G>T ENSP00000422444.1:n.146+86G>T
ENST00000513012.2:c.146+86G>T ENSP00000422444.1:n.146+86G>T
ENST00000513345.5:c.146+86G>T ENSP00000421608.1:n.146+86G>T
ENST00000513345.6:c.146+86G>T ENSP00000421608.1:n.146+86G>T
ENST00000520028.2:c.111+121G>T ENSP00000430909.2:n.111+121G>T
ENST00000675100.1:c.111+121G>T ENSP00000502350.1:n.111+121G>T
ENST00000675372.1:c.146+86G>T ENSP00000502792.1:n.146+86G>T
ENST00000675491.1:c.111+121G>T ENSP00000502370.1:n.111+121G>T
XM_011543356.1:c.111+121G>T XP_011541658.1:n.111+121G>T