Canonical Allele Identifier: CA357235034

Gene: HPSE

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309466T>G , CM000666.2:g.83309466T>G	GRCh38
NC_000004.11:g.84230619T>G , CM000666.1:g.84230619T>G	GRCh37
NC_000004.10:g.84449643T>G	NCBI36
NG_028037.1:g.30688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311412.10:c.920A>C MANE Select	ENSP00000308107.5:p.Lys307Thr
ENST00000681769.1:c.920A>C	ENSP00000506434.1:p.Lys307Thr
ENST00000311412.9:c.920A>C	ENSP00000308107.5:p.Lys307Thr
ENST00000405413.6:c.920A>C	ENSP00000384262.2:p.Lys307Thr
ENST00000507150.5:c.*70A>C	ENSP00000426139.1:n.*70A>C
ENST00000508891.5:c.*70A>C	ENSP00000421827.1:n.*70A>C
ENST00000509906.5:c.920A>C	ENSP00000421038.1:p.Lys307Thr
ENST00000512196.5:c.920A>C	ENSP00000423265.1:p.Lys307Thr
ENST00000513463.1:c.746A>C	ENSP00000421365.1:p.Lys249Thr
NM_001098540.2:c.920A>C	NP_001092010.1:p.Lys307Thr
NM_001166498.2:c.920A>C	NP_001159970.1:p.Lys307Thr
NM_001199830.1:c.746A>C	NP_001186759.1:p.Lys249Thr
NM_006665.5:c.920A>C	NP_006656.2:p.Lys307Thr
XR_938943.1:n.100-6982T>G
NM_001098540.3:c.920A>C MANE Select	NP_001092010.1:p.Lys307Thr
NM_001166498.3:c.920A>C	NP_001159970.1:p.Lys307Thr
NM_006665.6:c.920A>C	NP_006656.2:p.Lys307Thr