Canonical Allele Identifier: CA2671393520
Gene: PYURF HGNC NCBI
PIGY HGNC NCBI
HERC3 HGNC NCBI

Linked Data

gnomAD v4: 4-88523711-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88523711C>A , CM000666.2:g.88523711C>A GRCh38
NC_000004.11:g.89444862C>A , CM000666.1:g.89444862C>A GRCh37
NC_000004.10:g.89663885C>A NCBI36
NG_046719.1:g.5091G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273968.5:c.-11G>T (PYURF) MANE Select ENSP00000273968.4:n.-11G>T
ENST00000527353.2:c.-454G>T (PIGY) MANE Select ENSP00000432688.1:n.-454G>T
ENST00000273968.4:c.-11G>T (PYURF) ENSP00000273968.4:n.-11G>T
ENST00000601319.1:n.1196C>A (HERC3)
NM_001042616.2:c.-454G>T (PIGY) NP_001036081.1:n.-454G>T
NM_032906.4:c.-11G>T (PYURF) NP_116295.1:n.-11G>T
NM_032906.5:c.-11G>T (PYURF) MANE Select NP_116295.1:n.-11G>T
NM_001042616.3:c.-454G>T (PIGY) MANE Select NP_001036081.1:n.-454G>T
Search 100 bp 5'
Search 100 bp 3'