Canonical Allele Identifier: CA11559491
Community Standard Title: NM_003071.4(HLTF):c.20+425T>C
Gene: HLTF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149085892A>G , CM000665.2:g.149085892A>G GRCh38
NC_000003.11:g.148803679A>G , CM000665.1:g.148803679A>G GRCh37
NC_000003.10:g.150286369A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003071.4:c.20+425T>C MANE Select NP_003062.2:n.20+425T>C
ENST00000310053.10:c.20+425T>C MANE Select ENSP00000308944.5:n.20+425T>C
NM_001318934.1:c.20+425T>C NP_001305863.1:n.20+425T>C
NM_001318934.2:c.20+425T>C NP_001305863.1:n.20+425T>C
NM_001318935.1:c.20+425T>C NP_001305864.1:n.20+425T>C
NM_001318935.2:c.20+425T>C NP_001305864.1:n.20+425T>C
NM_003071.3:c.20+425T>C NP_003062.2:n.20+425T>C
NM_139048.2:c.20+425T>C NP_620636.1:n.20+425T>C
NM_139048.3:c.20+425T>C NP_620636.1:n.20+425T>C
ENST00000310053.9:c.20+425T>C ENSP00000308944.5:n.20+425T>C
ENST00000392912.6:c.20+425T>C ENSP00000376644.2:n.20+425T>C
ENST00000465259.5:c.20+425T>C ENSP00000420745.1:n.20+425T>C
ENST00000481663.1:n.189+425T>C
ENST00000494055.5:c.20+425T>C ENSP00000420429.1:n.20+425T>C
XM_005247724.2:c.20+425T>C XP_005247781.1:n.20+425T>C
XM_011513091.1:c.20+425T>C XP_011511393.1:n.20+425T>C
XM_011513091.2:c.20+425T>C XP_011511393.1:n.20+425T>C
XM_011513092.1:c.20+425T>C XP_011511394.1:n.20+425T>C
XM_011513092.2:c.20+425T>C XP_011511394.1:n.20+425T>C
XM_011513093.1:c.20+425T>C XP_011511395.1:n.20+425T>C
XM_011513093.2:c.20+425T>C XP_011511395.1:n.20+425T>C
XM_017007078.1:c.20+425T>C XP_016862567.1:n.20+425T>C
XM_017007079.2:c.20+425T>C XP_016862568.1:n.20+425T>C