Canonical Allele Identifier: CA357235056

Gene: HPSE

Linked Data

• MyVariant Identifiers: chr4:g.84230620T>G (hg19) ; chr4:g.83309467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309467T>G , CM000666.2:g.83309467T>G	GRCh38
NC_000004.11:g.84230620T>G , CM000666.1:g.84230620T>G	GRCh37
NC_000004.10:g.84449644T>G	NCBI36
NG_028037.1:g.30687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311412.10:c.919A>C MANE Select	ENSP00000308107.5:p.Lys307Gln
ENST00000681769.1:c.919A>C	ENSP00000506434.1:p.Lys307Gln
ENST00000311412.9:c.919A>C	ENSP00000308107.5:p.Lys307Gln
ENST00000405413.6:c.919A>C	ENSP00000384262.2:p.Lys307Gln
ENST00000507150.5:c.*69A>C	ENSP00000426139.1:n.*69A>C
ENST00000508891.5:c.*69A>C	ENSP00000421827.1:n.*69A>C
ENST00000509906.5:c.919A>C	ENSP00000421038.1:p.Lys307Gln
ENST00000512196.5:c.919A>C	ENSP00000423265.1:p.Lys307Gln
ENST00000513463.1:c.745A>C	ENSP00000421365.1:p.Lys249Gln
NM_001098540.2:c.919A>C	NP_001092010.1:p.Lys307Gln
NM_001166498.2:c.919A>C	NP_001159970.1:p.Lys307Gln
NM_001199830.1:c.745A>C	NP_001186759.1:p.Lys249Gln
NM_006665.5:c.919A>C	NP_006656.2:p.Lys307Gln
XR_938943.1:n.100-6981T>G
NM_001098540.3:c.919A>C MANE Select	NP_001092010.1:p.Lys307Gln
NM_001166498.3:c.919A>C	NP_001159970.1:p.Lys307Gln
NM_006665.6:c.919A>C	NP_006656.2:p.Lys307Gln