Canonical Allele Identifier: CA13167344
Gene: PSD HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102403013G>A , CM000672.2:g.102403013G>A GRCh38
NC_000010.10:g.104162770G>A , CM000672.1:g.104162770G>A GRCh37
NC_000010.9:g.104152760G>A NCBI36
NG_033874.1:g.13904G>A
NG_033874.2:g.13904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000020673.6:c.*187C>T MANE Select ENSP00000020673.5:n.*187C>T
ENST00000020673.5:c.*187C>T ENSP00000020673.5:n.*187C>T
ENST00000406432.5:c.*187C>T ENSP00000384830.1:n.*187C>T
ENST00000611678.4:c.*187C>T ENSP00000481250.1:n.*187C>T
NM_001270965.1:c.*187C>T NP_001257894.1:n.*187C>T
NM_001270966.1:c.*187C>T NP_001257895.1:n.*187C>T
NM_002779.4:c.*187C>T NP_002770.3:n.*187C>T
NR_073110.1:n.1561C>T
XM_011539968.1:c.*187C>T XP_011538270.1:n.*187C>T
XM_011539969.1:c.*187C>T XP_011538271.1:n.*187C>T
XM_011539969.2:c.*187C>T XP_011538271.1:n.*187C>T
XM_017016433.1:c.*187C>T XP_016871922.1:n.*187C>T
XM_017016434.2:c.*187C>T XP_016871923.1:n.*187C>T
NM_002779.5:c.*187C>T MANE Select NP_002770.3:n.*187C>T
NR_073110.2:n.1554C>T
NM_001270965.2:c.*187C>T NP_001257894.1:n.*187C>T
NM_001270966.2:c.*187C>T NP_001257895.1:n.*187C>T