Canonical Allele Identifier: CA354045889

Gene: POGLUT1

Linked Data

• MyVariant Identifiers: chr3:g.119205740T>A (hg19) ; chr3:g.119486893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119486893T>A , CM000665.2:g.119486893T>A	GRCh38
NC_000003.11:g.119205740T>A , CM000665.1:g.119205740T>A	GRCh37
NC_000003.10:g.120688430T>A	NCBI36
NG_034115.1:g.22956T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295588.9:c.699T>A MANE Select	ENSP00000295588.4:p.Asp233Glu
ENST00000647766.1:c.*419T>A	ENSP00000498165.1:n.*419T>A
ENST00000295588.8:c.699T>A	ENSP00000295588.4:p.Asp233Glu
ENST00000486607.5:c.*350T>A	ENSP00000419876.1:n.*350T>A
ENST00000497447.5:c.*419T>A	ENSP00000419288.1:n.*419T>A
NM_152305.2:c.699T>A	NP_689518.1:p.Asp233Glu
NR_024265.1:n.926T>A
XM_006713704.2:c.222T>A	XP_006713767.1:p.Asp74Glu
XM_006713705.2:c.222T>A	XP_006713768.1:p.Asp74Glu
XM_011512997.1:c.699T>A	XP_011511299.1:p.Asp233Glu
XM_006713705.3:c.222T>A	XP_006713768.1:p.Asp74Glu
XM_017006878.2:c.222T>A	XP_016862367.1:p.Asp74Glu
XM_017006879.1:c.222T>A	XP_016862368.1:p.Asp74Glu
XM_024453643.1:c.222T>A	XP_024309411.1:p.Asp74Glu
XR_001740211.2:n.758T>A
XR_001740212.2:n.758T>A
NM_152305.3:c.699T>A MANE Select	NP_689518.1:p.Asp233Glu
NR_024265.2:n.901T>A