Canonical Allele Identifier: CA1839843
Community Standard Title: NM_012455.3(PSD4):c.3081G>C (p.Glu1027Asp)
Gene: PSD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.113201325G>C , CM000664.2:g.113201325G>C GRCh38
NC_000002.11:g.113958902G>C , CM000664.1:g.113958902G>C GRCh37
NC_000002.10:g.113675373G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012455.3:c.3081G>C MANE Select NP_036587.2:p.Glu1027Asp
ENST00000245796.11:c.3081G>C MANE Select ENSP00000245796.6:p.Glu1027Asp
NM_012455.2:c.3081G>C NP_036587.2:p.Glu1027Asp
ENST00000245796.10:c.3081G>C ENSP00000245796.6:p.Glu1027Asp
ENST00000409378.1:c.575G>C ENSP00000386606.1:n.575G>C
ENST00000409656.5:c.2153G>C ENSP00000386373.1:n.2153G>C
ENST00000418251.6:n.3700G>C
ENST00000441564.7:c.2994G>C ENSP00000413997.2:p.Glu998Asp
ENST00000460725.5:n.1176G>C
ENST00000464559.1:n.837G>C
XM_005263634.2:c.3081G>C XP_005263691.1:p.Glu1027Asp
XM_006712392.2:c.3078G>C XP_006712455.1:p.Glu1026Asp
XM_006712393.2:c.*38G>C XP_006712456.1:n.*38G>C
XM_006712394.2:c.*38G>C XP_006712457.1:n.*38G>C
XM_011510888.1:c.2871G>C XP_011509190.1:p.Glu957Asp