Canonical Allele Identifier: CA2988977

Gene: HPSE

Linked Data

• ClinVar Variation Id: 3060058
• ClinVar RCV Id: RCV003982087
• dbSNP Id: rs11099592
• ExAC: 4:84230619 T / C
• gnomAD v2: 4-84230619-T-C
• gnomAD v3: 4-83309466-T-C
• gnomAD v4: 4-83309466-T-C
• MyVariant Identifiers: chr4:g.84230619T>C (hg19) ; chr4:g.83309466T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.920A>G MANE Select	ENSP00000308107.5:p.Lys307Arg
ENST00000681769.1:c.920A>G	ENSP00000506434.1:p.Lys307Arg
ENST00000311412.9:c.920A>G	ENSP00000308107.5:p.Lys307Arg
ENST00000405413.6:c.920A>G	ENSP00000384262.2:p.Lys307Arg
ENST00000507150.5:c.*70A>G	ENSP00000426139.1:n.*70A>G
ENST00000508891.5:c.*70A>G	ENSP00000421827.1:n.*70A>G
ENST00000509906.5:c.920A>G	ENSP00000421038.1:p.Lys307Arg
ENST00000512196.5:c.920A>G	ENSP00000423265.1:p.Lys307Arg
ENST00000513463.1:c.746A>G	ENSP00000421365.1:p.Lys249Arg
NM_001098540.2:c.920A>G	NP_001092010.1:p.Lys307Arg
NM_001166498.2:c.920A>G	NP_001159970.1:p.Lys307Arg
NM_001199830.1:c.746A>G	NP_001186759.1:p.Lys249Arg
NM_006665.5:c.920A>G	NP_006656.2:p.Lys307Arg
XR_938943.1:n.100-6982T>C
NM_001098540.3:c.920A>G MANE Select	NP_001092010.1:p.Lys307Arg
NM_001166498.3:c.920A>G	NP_001159970.1:p.Lys307Arg
NM_006665.6:c.920A>G	NP_006656.2:p.Lys307Arg