Canonical Allele Identifier: CA501602517

Gene: PSMD12

Linked Data

• gnomAD v4: 17-67350268-A-G
• MyVariant Identifiers: chr17:g.65346384A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350268A>G , CM000679.2:g.67350268A>G	GRCh38
NC_000017.10:g.65346384A>G , CM000679.1:g.65346384A>G	GRCh37
NC_000017.9:g.62776846A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.366T>C MANE Select	ENSP00000348442.3:p.Leu122=
ENST00000356126.7:c.366T>C	ENSP00000348442.3:p.Leu122=
ENST00000357146.4:c.306T>C	ENSP00000349667.4:p.Leu102=
ENST00000581618.1:n.603T>C
ENST00000584008.5:c.*521T>C	ENSP00000462525.1:n.*521T>C
ENST00000584289.5:n.415T>C
NM_001316341.1:c.189T>C	NP_001303270.1:p.Leu63=
NM_002816.3:c.366T>C	NP_002807.1:p.Leu122=
NM_002816.4:c.366T>C	NP_002807.1:p.Leu122=
NM_174871.2:c.306T>C	NP_777360.1:p.Leu102=
NM_174871.3:c.306T>C	NP_777360.1:p.Leu102=
XM_011525048.1:c.189T>C	XP_011523350.1:p.Leu63=
XM_011525049.1:c.189T>C	XP_011523351.1:p.Leu63=
XM_011525050.1:c.366T>C	XP_011523352.1:p.Leu122=
XM_024450842.1:c.453T>C	XP_024306610.1:p.Leu151=
XM_024450843.1:c.189T>C	XP_024306611.1:p.Leu63=
XR_001752571.2:n.445T>C
NM_002816.5:c.366T>C MANE Select	NP_002807.1:p.Leu122=
NM_001316341.2:c.189T>C	NP_001303270.1:p.Leu63=
NM_174871.4:c.306T>C	NP_777360.1:p.Leu102=