Canonical Allele Identifier: CA1472751847

Gene: HPSE

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83302560C>G , CM000666.2:g.83302560C>G	GRCh38
NC_000004.11:g.84223713C>G , CM000666.1:g.84223713C>G	GRCh37
NC_000004.10:g.84442737C>G	NCBI36
NG_028037.1:g.37594G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311412.10:c.1207-292G>C MANE Select	ENSP00000308107.5:n.1207-292G>C
ENST00000681769.1:c.1207-292G>C	ENSP00000506434.1:n.1207-292G>C
ENST00000311412.9:c.1207-292G>C	ENSP00000308107.5:n.1207-292G>C
ENST00000405413.6:c.1207-292G>C	ENSP00000384262.2:n.1207-292G>C
ENST00000507150.5:c.*357-292G>C	ENSP00000426139.1:n.*357-292G>C
ENST00000508891.5:c.*357-292G>C	ENSP00000421827.1:n.*357-292G>C
ENST00000509906.5:c.1092-292G>C	ENSP00000421038.1:n.1092-292G>C
ENST00000512196.5:c.985-292G>C	ENSP00000423265.1:n.985-292G>C
ENST00000513463.1:c.1033-292G>C	ENSP00000421365.1:n.1033-292G>C
NM_001098540.2:c.1207-292G>C	NP_001092010.1:n.1207-292G>C
NM_001166498.2:c.985-292G>C	NP_001159970.1:n.985-292G>C
NM_001199830.1:c.1033-292G>C	NP_001186759.1:n.1033-292G>C
NM_006665.5:c.1207-292G>C	NP_006656.2:n.1207-292G>C
XR_938943.1:n.99+4593C>G
NM_001098540.3:c.1207-292G>C MANE Select	NP_001092010.1:n.1207-292G>C
NM_001166498.3:c.985-292G>C	NP_001159970.1:n.985-292G>C
NM_006665.6:c.1207-292G>C	NP_006656.2:n.1207-292G>C