Canonical Allele Identifier: CA400805627

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350333-C-A
• MyVariant Identifiers: chr17:g.65346449C>A (hg19) ; chr17:g.67350333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350333C>A , CM000679.2:g.67350333C>A	GRCh38
NC_000017.10:g.65346449C>A , CM000679.1:g.65346449C>A	GRCh37
NC_000017.9:g.62776911C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.301G>T MANE Select	ENSP00000348442.3:p.Val101Phe
ENST00000356126.7:c.301G>T	ENSP00000348442.3:p.Val101Phe
ENST00000357146.4:c.241G>T	ENSP00000349667.4:p.Val81Phe
ENST00000579365.5:c.*351G>T	ENSP00000463017.1:n.*351G>T
ENST00000581618.1:n.538G>T
ENST00000584008.5:c.*456G>T	ENSP00000462525.1:n.*456G>T
ENST00000584289.5:n.350G>T
NM_001316341.1:c.124G>T	NP_001303270.1:p.Val42Phe
NM_002816.3:c.301G>T	NP_002807.1:p.Val101Phe
NM_002816.4:c.301G>T	NP_002807.1:p.Val101Phe
NM_174871.2:c.241G>T	NP_777360.1:p.Val81Phe
NM_174871.3:c.241G>T	NP_777360.1:p.Val81Phe
XM_011525048.1:c.124G>T	XP_011523350.1:p.Val42Phe
XM_011525049.1:c.124G>T	XP_011523351.1:p.Val42Phe
XM_011525050.1:c.301G>T	XP_011523352.1:p.Val101Phe
XM_024450842.1:c.388G>T	XP_024306610.1:p.Val130Phe
XM_024450843.1:c.124G>T	XP_024306611.1:p.Val42Phe
XR_001752571.2:n.380G>T
NM_002816.5:c.301G>T MANE Select	NP_002807.1:p.Val101Phe
NM_001316341.2:c.124G>T	NP_001303270.1:p.Val42Phe
NM_174871.4:c.241G>T	NP_777360.1:p.Val81Phe