Canonical Allele Identifier: CA2671393514
Gene: PYURF HGNC NCBI
PIGY HGNC NCBI
HERC3 HGNC NCBI

Linked Data

gnomAD v4: 4-88523706-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88523706G>T , CM000666.2:g.88523706G>T GRCh38
NC_000004.11:g.89444857G>T , CM000666.1:g.89444857G>T GRCh37
NC_000004.10:g.89663880G>T NCBI36
NG_046719.1:g.5096C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273968.5:c.-6C>A (PYURF) MANE Select ENSP00000273968.4:n.-6C>A
ENST00000527353.2:c.-449C>A (PIGY) MANE Select ENSP00000432688.1:n.-449C>A
ENST00000273968.4:c.-6C>A (PYURF) ENSP00000273968.4:n.-6C>A
ENST00000601319.1:n.1191G>T (HERC3)
NM_001042616.2:c.-449C>A (PIGY) NP_001036081.1:n.-449C>A
NM_032906.4:c.-6C>A (PYURF) NP_116295.1:n.-6C>A
NM_032906.5:c.-6C>A (PYURF) MANE Select NP_116295.1:n.-6C>A
NM_001042616.3:c.-449C>A (PIGY) MANE Select NP_001036081.1:n.-449C>A
Search 100 bp 5'
Search 100 bp 3'