Canonical Allele Identifier: CA400805616

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346443T>A (hg19) ; chr17:g.67350327T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350327T>A , CM000679.2:g.67350327T>A	GRCh38
NC_000017.10:g.65346443T>A , CM000679.1:g.65346443T>A	GRCh37
NC_000017.9:g.62776905T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.307A>T MANE Select	ENSP00000348442.3:p.Lys103Ter
ENST00000356126.7:c.307A>T	ENSP00000348442.3:p.Lys103Ter
ENST00000357146.4:c.247A>T	ENSP00000349667.4:p.Lys83Ter
ENST00000579365.5:c.*357A>T	ENSP00000463017.1:n.*357A>T
ENST00000581618.1:n.544A>T
ENST00000584008.5:c.*462A>T	ENSP00000462525.1:n.*462A>T
ENST00000584289.5:n.356A>T
NM_001316341.1:c.130A>T	NP_001303270.1:p.Lys44Ter
NM_002816.3:c.307A>T	NP_002807.1:p.Lys103Ter
NM_002816.4:c.307A>T	NP_002807.1:p.Lys103Ter
NM_174871.2:c.247A>T	NP_777360.1:p.Lys83Ter
NM_174871.3:c.247A>T	NP_777360.1:p.Lys83Ter
XM_011525048.1:c.130A>T	XP_011523350.1:p.Lys44Ter
XM_011525049.1:c.130A>T	XP_011523351.1:p.Lys44Ter
XM_011525050.1:c.307A>T	XP_011523352.1:p.Lys103Ter
XM_024450842.1:c.394A>T	XP_024306610.1:p.Lys132Ter
XM_024450843.1:c.130A>T	XP_024306611.1:p.Lys44Ter
XR_001752571.2:n.386A>T
NM_002816.5:c.307A>T MANE Select	NP_002807.1:p.Lys103Ter
NM_001316341.2:c.130A>T	NP_001303270.1:p.Lys44Ter
NM_174871.4:c.247A>T	NP_777360.1:p.Lys83Ter