Canonical Allele Identifier: CA400805442

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346365G>C (hg19) ; chr17:g.67350249G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350249G>C , CM000679.2:g.67350249G>C	GRCh38
NC_000017.10:g.65346365G>C , CM000679.1:g.65346365G>C	GRCh37
NC_000017.9:g.62776827G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.385C>G MANE Select	ENSP00000348442.3:p.Arg129Gly
ENST00000356126.7:c.385C>G	ENSP00000348442.3:p.Arg129Gly
ENST00000357146.4:c.325C>G	ENSP00000349667.4:p.Arg109Gly
ENST00000584008.5:c.*540C>G	ENSP00000462525.1:n.*540C>G
ENST00000584289.5:n.434C>G
NM_001316341.1:c.208C>G	NP_001303270.1:p.Arg70Gly
NM_002816.3:c.385C>G	NP_002807.1:p.Arg129Gly
NM_002816.4:c.385C>G	NP_002807.1:p.Arg129Gly
NM_174871.2:c.325C>G	NP_777360.1:p.Arg109Gly
NM_174871.3:c.325C>G	NP_777360.1:p.Arg109Gly
XM_011525048.1:c.208C>G	XP_011523350.1:p.Arg70Gly
XM_011525049.1:c.208C>G	XP_011523351.1:p.Arg70Gly
XM_011525050.1:c.385C>G	XP_011523352.1:p.Arg129Gly
XM_024450842.1:c.472C>G	XP_024306610.1:p.Arg158Gly
XM_024450843.1:c.208C>G	XP_024306611.1:p.Arg70Gly
XR_001752571.2:n.464C>G
NM_002816.5:c.385C>G MANE Select	NP_002807.1:p.Arg129Gly
NM_001316341.2:c.208C>G	NP_001303270.1:p.Arg70Gly
NM_174871.4:c.325C>G	NP_777360.1:p.Arg109Gly