Canonical Allele Identifier: CA400805462

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350259-A-C
• MyVariant Identifiers: chr17:g.65346375A>C (hg19) ; chr17:g.67350259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350259A>C , CM000679.2:g.67350259A>C	GRCh38
NC_000017.10:g.65346375A>C , CM000679.1:g.65346375A>C	GRCh37
NC_000017.9:g.62776837A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.375T>G MANE Select	ENSP00000348442.3:p.Ile125Met
ENST00000356126.7:c.375T>G	ENSP00000348442.3:p.Ile125Met
ENST00000357146.4:c.315T>G	ENSP00000349667.4:p.Ile105Met
ENST00000581618.1:n.612T>G
ENST00000584008.5:c.*530T>G	ENSP00000462525.1:n.*530T>G
ENST00000584289.5:n.424T>G
NM_001316341.1:c.198T>G	NP_001303270.1:p.Ile66Met
NM_002816.3:c.375T>G	NP_002807.1:p.Ile125Met
NM_002816.4:c.375T>G	NP_002807.1:p.Ile125Met
NM_174871.2:c.315T>G	NP_777360.1:p.Ile105Met
NM_174871.3:c.315T>G	NP_777360.1:p.Ile105Met
XM_011525048.1:c.198T>G	XP_011523350.1:p.Ile66Met
XM_011525049.1:c.198T>G	XP_011523351.1:p.Ile66Met
XM_011525050.1:c.375T>G	XP_011523352.1:p.Ile125Met
XM_024450842.1:c.462T>G	XP_024306610.1:p.Ile154Met
XM_024450843.1:c.198T>G	XP_024306611.1:p.Ile66Met
XR_001752571.2:n.454T>G
NM_002816.5:c.375T>G MANE Select	NP_002807.1:p.Ile125Met
NM_001316341.2:c.198T>G	NP_001303270.1:p.Ile66Met
NM_174871.4:c.315T>G	NP_777360.1:p.Ile105Met