Canonical Allele Identifier: CA400805503

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346395G>C (hg19) ; chr17:g.67350279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350279G>C , CM000679.2:g.67350279G>C	GRCh38
NC_000017.10:g.65346395G>C , CM000679.1:g.65346395G>C	GRCh37
NC_000017.9:g.62776857G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.355C>G MANE Select	ENSP00000348442.3:p.Pro119Ala
ENST00000356126.7:c.355C>G	ENSP00000348442.3:p.Pro119Ala
ENST00000357146.4:c.295C>G	ENSP00000349667.4:p.Pro99Ala
ENST00000581618.1:n.592C>G
ENST00000584008.5:c.*510C>G	ENSP00000462525.1:n.*510C>G
ENST00000584289.5:n.404C>G
NM_001316341.1:c.178C>G	NP_001303270.1:p.Pro60Ala
NM_002816.3:c.355C>G	NP_002807.1:p.Pro119Ala
NM_002816.4:c.355C>G	NP_002807.1:p.Pro119Ala
NM_174871.2:c.295C>G	NP_777360.1:p.Pro99Ala
NM_174871.3:c.295C>G	NP_777360.1:p.Pro99Ala
XM_011525048.1:c.178C>G	XP_011523350.1:p.Pro60Ala
XM_011525049.1:c.178C>G	XP_011523351.1:p.Pro60Ala
XM_011525050.1:c.355C>G	XP_011523352.1:p.Pro119Ala
XM_024450842.1:c.442C>G	XP_024306610.1:p.Pro148Ala
XM_024450843.1:c.178C>G	XP_024306611.1:p.Pro60Ala
XR_001752571.2:n.434C>G
NM_002816.5:c.355C>G MANE Select	NP_002807.1:p.Pro119Ala
NM_001316341.2:c.178C>G	NP_001303270.1:p.Pro60Ala
NM_174871.4:c.295C>G	NP_777360.1:p.Pro99Ala