Canonical Allele Identifier: CA2494693
Community Standard Title: NM_015009.3(PDZRN3):c.182C>T (p.Ser61Leu)
Gene: PDZRN3 HGNC NCBI
PDZRN3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.73624644G>A , CM000665.2:g.73624644G>A GRCh38
NC_000003.11:g.73673795G>A , CM000665.1:g.73673795G>A GRCh37
NC_000003.10:g.73756485G>A NCBI36
NG_047128.1:g.5278C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015009.3:c.182C>T (PDZRN3) MANE Select NP_055824.1:p.Ser61Leu
ENST00000263666.9:c.182C>T (PDZRN3) MANE Select ENSP00000263666.4:p.Ser61Leu
NM_015009.2:c.182C>T (PDZRN3) NP_055824.1:p.Ser61Leu
NR_046681.1:n.398+679G>A (PDZRN3-AS1)
ENST00000263666.8:c.182C>T (PDZRN3) ENSP00000263666.4:p.Ser61Leu
ENST00000308537.4:c.182C>T (PDZRN3) ENSP00000308831.4:p.Ser61Leu
XM_017005942.2:c.182C>T (PDZRN3) XP_016861431.1:p.Ser61Leu