Canonical Allele Identifier: CA440111869

Gene: HPSE

Linked Data

• gnomAD v4: 4-83309474-A-C
• MyVariant Identifiers: chr4:g.84230627A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309474A>C , CM000666.2:g.83309474A>C	GRCh38
NC_000004.11:g.84230627A>C , CM000666.1:g.84230627A>C	GRCh37
NC_000004.10:g.84449651A>C	NCBI36
NG_028037.1:g.30680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311412.10:c.912T>G MANE Select	ENSP00000308107.5:p.Thr304=
ENST00000681769.1:c.912T>G	ENSP00000506434.1:p.Thr304=
ENST00000311412.9:c.912T>G	ENSP00000308107.5:p.Thr304=
ENST00000405413.6:c.912T>G	ENSP00000384262.2:p.Thr304=
ENST00000507150.5:c.*62T>G	ENSP00000426139.1:n.*62T>G
ENST00000508891.5:c.*62T>G	ENSP00000421827.1:n.*62T>G
ENST00000509906.5:c.912T>G	ENSP00000421038.1:p.Thr304=
ENST00000512196.5:c.912T>G	ENSP00000423265.1:p.Thr304=
ENST00000513463.1:c.738T>G	ENSP00000421365.1:p.Thr246=
NM_001098540.2:c.912T>G	NP_001092010.1:p.Thr304=
NM_001166498.2:c.912T>G	NP_001159970.1:p.Thr304=
NM_001199830.1:c.738T>G	NP_001186759.1:p.Thr246=
NM_006665.5:c.912T>G	NP_006656.2:p.Thr304=
XR_938943.1:n.100-6974A>C
NM_001098540.3:c.912T>G MANE Select	NP_001092010.1:p.Thr304=
NM_001166498.3:c.912T>G	NP_001159970.1:p.Thr304=
NM_006665.6:c.912T>G	NP_006656.2:p.Thr304=