Canonical Allele Identifier: CA2988979

Gene: HPSE

Linked Data

• dbSNP Id: rs535350287
• ExAC: 4:84230632 G / A
• gnomAD v2: 4-84230632-G-A
• gnomAD v3: 4-83309479-G-A
• gnomAD v4: 4-83309479-G-A
• COSMIC: COSM2955956
• MyVariant Identifiers: chr4:g.84230632G>A (hg19) ; chr4:g.83309479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83309479G>A , CM000666.2:g.83309479G>A	GRCh38
NC_000004.11:g.84230632G>A , CM000666.1:g.84230632G>A	GRCh37
NC_000004.10:g.84449656G>A	NCBI36
NG_028037.1:g.30675C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.907C>T MANE Select	ENSP00000308107.5:p.Arg303Trp
ENST00000681769.1:c.907C>T	ENSP00000506434.1:p.Arg303Trp
ENST00000311412.9:c.907C>T	ENSP00000308107.5:p.Arg303Trp
ENST00000405413.6:c.907C>T	ENSP00000384262.2:p.Arg303Trp
ENST00000507150.5:c.*57C>T	ENSP00000426139.1:n.*57C>T
ENST00000508891.5:c.*57C>T	ENSP00000421827.1:n.*57C>T
ENST00000509906.5:c.907C>T	ENSP00000421038.1:p.Arg303Trp
ENST00000512196.5:c.907C>T	ENSP00000423265.1:p.Arg303Trp
ENST00000513463.1:c.733C>T	ENSP00000421365.1:p.Arg245Trp
NM_001098540.2:c.907C>T	NP_001092010.1:p.Arg303Trp
NM_001166498.2:c.907C>T	NP_001159970.1:p.Arg303Trp
NM_001199830.1:c.733C>T	NP_001186759.1:p.Arg245Trp
NM_006665.5:c.907C>T	NP_006656.2:p.Arg303Trp
XR_938943.1:n.100-6969G>A
NM_001098540.3:c.907C>T MANE Select	NP_001092010.1:p.Arg303Trp
NM_001166498.3:c.907C>T	NP_001159970.1:p.Arg303Trp
NM_006665.6:c.907C>T	NP_006656.2:p.Arg303Trp