Canonical Allele Identifier: CA400805471

Gene: PSMD12

Linked Data

• MyVariant Identifiers: chr17:g.65346379A>G (hg19) ; chr17:g.67350263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67350263A>G , CM000679.2:g.67350263A>G	GRCh38
NC_000017.10:g.65346379A>G , CM000679.1:g.65346379A>G	GRCh37
NC_000017.9:g.62776841A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356126.8:c.371T>C MANE Select	ENSP00000348442.3:p.Leu124Ser
ENST00000356126.7:c.371T>C	ENSP00000348442.3:p.Leu124Ser
ENST00000357146.4:c.311T>C	ENSP00000349667.4:p.Leu104Ser
ENST00000581618.1:n.608T>C
ENST00000584008.5:c.*526T>C	ENSP00000462525.1:n.*526T>C
ENST00000584289.5:n.420T>C
NM_001316341.1:c.194T>C	NP_001303270.1:p.Leu65Ser
NM_002816.3:c.371T>C	NP_002807.1:p.Leu124Ser
NM_002816.4:c.371T>C	NP_002807.1:p.Leu124Ser
NM_174871.2:c.311T>C	NP_777360.1:p.Leu104Ser
NM_174871.3:c.311T>C	NP_777360.1:p.Leu104Ser
XM_011525048.1:c.194T>C	XP_011523350.1:p.Leu65Ser
XM_011525049.1:c.194T>C	XP_011523351.1:p.Leu65Ser
XM_011525050.1:c.371T>C	XP_011523352.1:p.Leu124Ser
XM_024450842.1:c.458T>C	XP_024306610.1:p.Leu153Ser
XM_024450843.1:c.194T>C	XP_024306611.1:p.Leu65Ser
XR_001752571.2:n.450T>C
NM_002816.5:c.371T>C MANE Select	NP_002807.1:p.Leu124Ser
NM_001316341.2:c.194T>C	NP_001303270.1:p.Leu65Ser
NM_174871.4:c.311T>C	NP_777360.1:p.Leu104Ser