Canonical Allele Identifier: CA553086301

Gene: PYURF PIGY HERC3

Linked Data

• dbSNP Id: rs1219304034
• gnomAD v2: 4-89444858-G-A
• gnomAD v3: 4-88523707-G-A
• gnomAD v4: 4-88523707-G-A
• MyVariant Identifiers: chr4:g.89444858G>A (hg19) ; chr4:g.88523707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88523707G>A , CM000666.2:g.88523707G>A	GRCh38
NC_000004.11:g.89444858G>A , CM000666.1:g.89444858G>A	GRCh37
NC_000004.10:g.89663881G>A	NCBI36
NG_046719.1:g.5095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273968.5:c.-7C>T (PYURF) MANE Select	ENSP00000273968.4:n.-7C>T
ENST00000527353.2:c.-450C>T (PIGY) MANE Select	ENSP00000432688.1:n.-450C>T
ENST00000273968.4:c.-7C>T (PYURF)	ENSP00000273968.4:n.-7C>T
ENST00000601319.1:n.1192G>A (HERC3)
NM_001042616.2:c.-450C>T (PIGY)	NP_001036081.1:n.-450C>T
NM_032906.4:c.-7C>T (PYURF)	NP_116295.1:n.-7C>T
NM_032906.5:c.-7C>T (PYURF) MANE Select	NP_116295.1:n.-7C>T
NM_001042616.3:c.-450C>T (PIGY) MANE Select	NP_001036081.1:n.-450C>T