Canonical Allele Identifier: CA1472740274
Gene: HPSE HGNC NCBI

Linked Data

dbSNP Id: rs6856901
gnomAD v4: 4-83295215-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.83295215C>T , CM000666.2:g.83295215C>T GRCh38
NC_000004.11:g.84216368C>T , CM000666.1:g.84216368C>T GRCh37
NC_000004.10:g.84435392C>T NCBI36
NG_028037.1:g.44939G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311412.10:c.*129G>A MANE Select ENSP00000308107.5:n.*129G>A
ENST00000681769.1:c.1473-1620G>A ENSP00000506434.1:n.1473-1620G>A
ENST00000311412.9:c.*129G>A ENSP00000308107.5:n.*129G>A
ENST00000405413.6:c.*129G>A ENSP00000384262.2:n.*129G>A
NM_001098540.2:c.*129G>A NP_001092010.1:n.*129G>A
NM_001166498.2:c.*129G>A NP_001159970.1:n.*129G>A
NM_001199830.1:c.*129G>A NP_001186759.1:n.*129G>A
NM_006665.5:c.*129G>A NP_006656.2:n.*129G>A
NM_001098540.3:c.*129G>A MANE Select NP_001092010.1:n.*129G>A
NM_001166498.3:c.*129G>A NP_001159970.1:n.*129G>A
NM_006665.6:c.*129G>A NP_006656.2:n.*129G>A
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