Canonical Allele Identifier: CA1472748439

Gene: HPSE

Linked Data

• dbSNP Id: rs12503843

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83300266A>C , CM000666.2:g.83300266A>C	GRCh38
NC_000004.11:g.84221419A>C , CM000666.1:g.84221419A>C	GRCh37
NC_000004.10:g.84440443A>C	NCBI36
NG_028037.1:g.39888T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.1472+694T>G MANE Select	ENSP00000308107.5:n.1472+694T>G
ENST00000681769.1:c.1472+694T>G	ENSP00000506434.1:n.1472+694T>G
ENST00000311412.9:c.1472+694T>G	ENSP00000308107.5:n.1472+694T>G
ENST00000405413.6:c.1472+694T>G	ENSP00000384262.2:n.1472+694T>G
ENST00000507150.5:c.*622+694T>G	ENSP00000426139.1:n.*622+694T>G
ENST00000508891.5:c.*622+694T>G	ENSP00000421827.1:n.*622+694T>G
ENST00000509906.5:c.*214+694T>G	ENSP00000421038.1:n.*214+694T>G
ENST00000512196.5:c.1250+694T>G	ENSP00000423265.1:n.1250+694T>G
ENST00000513463.1:c.1298+694T>G	ENSP00000421365.1:n.1298+694T>G
NM_001098540.2:c.1472+694T>G	NP_001092010.1:n.1472+694T>G
NM_001166498.2:c.1250+694T>G	NP_001159970.1:n.1250+694T>G
NM_001199830.1:c.1298+694T>G	NP_001186759.1:n.1298+694T>G
NM_006665.5:c.1472+694T>G	NP_006656.2:n.1472+694T>G
XR_938943.1:n.99+2299A>C
NM_001098540.3:c.1472+694T>G MANE Select	NP_001092010.1:n.1472+694T>G
NM_001166498.3:c.1250+694T>G	NP_001159970.1:n.1250+694T>G
NM_006665.6:c.1472+694T>G	NP_006656.2:n.1472+694T>G