Canonical Allele Identifier: CA11728030

Gene: HPSE

Linked Data

• dbSNP Id: rs6856901
• gnomAD v2: 4-84216368-C-G
• gnomAD v3: 4-83295215-C-G
• gnomAD v4: 4-83295215-C-G
• MyVariant Identifiers: chr4:g.84216368C>G (hg19) ; chr4:g.83295215C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.83295215C>G , CM000666.2:g.83295215C>G	GRCh38
NC_000004.11:g.84216368C>G , CM000666.1:g.84216368C>G	GRCh37
NC_000004.10:g.84435392C>G	NCBI36
NG_028037.1:g.44939G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311412.10:c.*129G>C MANE Select	ENSP00000308107.5:n.*129G>C
ENST00000681769.1:c.1473-1620G>C	ENSP00000506434.1:n.1473-1620G>C
ENST00000311412.9:c.*129G>C	ENSP00000308107.5:n.*129G>C
ENST00000405413.6:c.*129G>C	ENSP00000384262.2:n.*129G>C
NM_001098540.2:c.*129G>C	NP_001092010.1:n.*129G>C
NM_001166498.2:c.*129G>C	NP_001159970.1:n.*129G>C
NM_001199830.1:c.*129G>C	NP_001186759.1:n.*129G>C
NM_006665.5:c.*129G>C	NP_006656.2:n.*129G>C
NM_001098540.3:c.*129G>C MANE Select	NP_001092010.1:n.*129G>C
NM_001166498.3:c.*129G>C	NP_001159970.1:n.*129G>C
NM_006665.6:c.*129G>C	NP_006656.2:n.*129G>C