Canonical Allele Identifier: CA1115178

Gene: PGLYRP4

Linked Data

• dbSNP Id: rs3006458
• ExAC: 1:153320372 T / A
• gnomAD v2: 1-153320372-T-A
• gnomAD v4: 1-153347896-T-A
• MyVariant Identifiers: chr1:g.153320372T>A (hg19) ; chr1:g.153347896T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153347896T>A , CM000663.2:g.153347896T>A	GRCh38
NC_000001.10:g.153320372T>A , CM000663.1:g.153320372T>A	GRCh37
NC_000001.9:g.151586996T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000359650.10:c.37A>T MANE Select	ENSP00000352672.5:p.Ile13Phe
ENST00000359650.9:c.37A>T	ENSP00000352672.5:p.Ile13Phe
ENST00000368739.3:c.37A>T	ENSP00000357728.3:p.Ile13Phe
ENST00000490266.1:n.83A>T
NM_020393.3:c.37A>T	NP_065126.2:p.Ile13Phe
XM_011509789.1:c.37A>T	XP_011508091.1:p.Ile13Phe
XM_011509790.1:c.37A>T	XP_011508092.1:p.Ile13Phe
XM_011509791.1:c.37A>T	XP_011508093.1:p.Ile13Phe
XM_011509792.1:c.37A>T	XP_011508094.1:p.Ile13Phe
XR_921896.1:n.397A>T
XR_921897.1:n.397A>T
XM_011509789.2:c.37A>T	XP_011508091.1:p.Ile13Phe
XM_011509791.2:c.37A>T	XP_011508093.1:p.Ile13Phe
XR_001737322.1:n.397A>T
XR_921897.2:n.397A>T
NM_020393.4:c.37A>T MANE Select	NP_065126.2:p.Ile13Phe