Canonical Allele Identifier: CA552799521

Gene: HPSE

Linked Data

• dbSNP Id: rs1327086735
• gnomAD v2: 4-84241417-A-C
• gnomAD v3: 4-83320264-A-C
• gnomAD v4: 4-83320264-A-C
• MyVariant Identifiers: chr4:g.84241417A>C (hg19) ; chr4:g.83320264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83320264A>C , CM000666.2:g.83320264A>C	GRCh38
NC_000004.11:g.84241417A>C , CM000666.1:g.84241417A>C	GRCh37
NC_000004.10:g.84460441A>C	NCBI36
NG_028037.1:g.19890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311412.10:c.374-795T>G MANE Select	ENSP00000308107.5:n.374-795T>G
ENST00000680713.1:n.393-795T>G
ENST00000681769.1:c.374-795T>G	ENSP00000506434.1:n.374-795T>G
ENST00000311412.9:c.374-795T>G	ENSP00000308107.5:n.374-795T>G
ENST00000405413.6:c.374-795T>G	ENSP00000384262.2:n.374-795T>G
ENST00000507150.5:c.374-795T>G	ENSP00000426139.1:n.374-795T>G
ENST00000508891.5:c.374-795T>G	ENSP00000421827.1:n.374-795T>G
ENST00000509906.5:c.374-795T>G	ENSP00000421038.1:n.374-795T>G
ENST00000512196.5:c.374-795T>G	ENSP00000423265.1:n.374-795T>G
ENST00000513463.1:c.374-795T>G	ENSP00000421365.1:n.374-795T>G
NM_001098540.2:c.374-795T>G	NP_001092010.1:n.374-795T>G
NM_001166498.2:c.374-795T>G	NP_001159970.1:n.374-795T>G
NM_001199830.1:c.374-795T>G	NP_001186759.1:n.374-795T>G
NM_006665.5:c.374-795T>G	NP_006656.2:n.374-795T>G
NM_001098540.3:c.374-795T>G MANE Select	NP_001092010.1:n.374-795T>G
NM_001166498.3:c.374-795T>G	NP_001159970.1:n.374-795T>G
NM_006665.6:c.374-795T>G	NP_006656.2:n.374-795T>G