Canonical Allele Identifier: CA343919901
Community Standard Title: NM_005807.6(PRG4):c.301G>T (p.Glu101Ter)
Gene: PRG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186301693G>T , CM000663.2:g.186301693G>T GRCh38
NC_000001.10:g.186270825G>T , CM000663.1:g.186270825G>T GRCh37
NC_000001.9:g.184537448G>T NCBI36
NG_008248.2:g.10408G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005807.6:c.301G>T MANE Select NP_005798.3:p.Glu101Ter
ENST00000445192.7:c.301G>T MANE Select ENSP00000399679.3:p.Glu101Ter
NM_001127708.2:c.178G>T NP_001121180.2:p.Glu60Ter
NM_001127708.3:c.178G>T NP_001121180.2:p.Glu60Ter
NM_001127709.2:c.301G>T NP_001121181.2:p.Glu101Ter
NM_001127709.3:c.301G>T NP_001121181.2:p.Glu101Ter
NM_001127710.2:c.178G>T NP_001121182.2:p.Glu60Ter
NM_001127710.3:c.178G>T NP_001121182.2:p.Glu60Ter
NM_001303232.1:c.301G>T NP_001290161.1:p.Glu101Ter
NM_001303232.2:c.301G>T NP_001290161.1:p.Glu101Ter
NM_005807.4:c.301G>T NP_005798.3:p.Glu101Ter
ENST00000367482.8:c.178G>T ENSP00000356452.4:p.Glu60Ter
ENST00000367483.8:c.178G>T ENSP00000356453.4:p.Glu60Ter
ENST00000367485.4:c.301G>T ENSP00000356455.4:p.Glu101Ter
ENST00000445192.6:c.301G>T ENSP00000399679.2:p.Glu101Ter
ENST00000533951.5:c.178G>T ENSP00000431330.1:p.Glu60Ter
ENST00000635041.1:c.301G>T ENSP00000489292.1:p.Glu101Ter
XM_024448707.1:c.301G>T XP_024304475.1:p.Glu101Ter
XM_024448717.1:c.178G>T XP_024304485.1:p.Glu60Ter