Canonical Allele Identifier: CA400805579

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346428A>G (hg19) ; chr17:g.67350312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350312A>G , CM000679.2:g.67350312A>G	GRCh38
NC_000017.10:g.65346428A>G , CM000679.1:g.65346428A>G	GRCh37
NC_000017.9:g.62776890A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.322T>C MANE Select	ENSP00000348442.3:p.Cys108Arg
ENST00000356126.7:c.322T>C	ENSP00000348442.3:p.Cys108Arg
ENST00000357146.4:c.262T>C	ENSP00000349667.4:p.Cys88Arg
ENST00000579365.5:c.*372T>C	ENSP00000463017.1:n.*372T>C
ENST00000581618.1:n.559T>C
ENST00000584008.5:c.*477T>C	ENSP00000462525.1:n.*477T>C
ENST00000584289.5:n.371T>C
NM_001316341.1:c.145T>C	NP_001303270.1:p.Cys49Arg
NM_002816.3:c.322T>C	NP_002807.1:p.Cys108Arg
NM_002816.4:c.322T>C	NP_002807.1:p.Cys108Arg
NM_174871.2:c.262T>C	NP_777360.1:p.Cys88Arg
NM_174871.3:c.262T>C	NP_777360.1:p.Cys88Arg
XM_011525048.1:c.145T>C	XP_011523350.1:p.Cys49Arg
XM_011525049.1:c.145T>C	XP_011523351.1:p.Cys49Arg
XM_011525050.1:c.322T>C	XP_011523352.1:p.Cys108Arg
XM_024450842.1:c.409T>C	XP_024306610.1:p.Cys137Arg
XM_024450843.1:c.145T>C	XP_024306611.1:p.Cys49Arg
XR_001752571.2:n.401T>C
NM_002816.5:c.322T>C MANE Select	NP_002807.1:p.Cys108Arg
NM_001316341.2:c.145T>C	NP_001303270.1:p.Cys49Arg
NM_174871.4:c.262T>C	NP_777360.1:p.Cys88Arg