Canonical Allele Identifier: CA8579053

Gene: PSMC3IP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42574190A>G , CM000679.2:g.42574190A>G	GRCh38
NC_000017.10:g.40726208A>G , CM000679.1:g.40726208A>G	GRCh37
NC_000017.9:g.37979734A>G	NCBI36
NG_029442.1:g.12131A>G
NG_031960.1:g.8642T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393795.8:c.246T>C MANE Select	ENSP00000377384.2:p.Ser82=
ENST00000253789.9:c.246T>C	ENSP00000253789.4:p.Ser82=
ENST00000393795.7:c.246T>C	ENSP00000377384.2:p.Ser82=
ENST00000586337.5:c.*10T>C	ENSP00000466031.1:n.*10T>C
ENST00000587209.5:c.57T>C	ENSP00000468188.1:p.Ser19=
ENST00000588544.5:c.*121T>C	ENSP00000465409.1:n.*121T>C
ENST00000589505.5:n.355T>C
ENST00000590760.5:c.-39+6T>C	ENSP00000466381.1:n.-39+6T>C
ENST00000590931.1:c.246T>C	ENSP00000467952.1:p.Ser82=
NM_001256014.1:c.57T>C	NP_001242943.1:p.Ser19=
NM_001256015.1:c.9T>C	NP_001242944.1:p.Ser3=
NM_001256016.1:c.9T>C	NP_001242945.1:p.Ser3=
NM_013290.6:c.246T>C	NP_037422.2:p.Ser82=
NM_016556.3:c.246T>C	NP_057640.1:p.Ser82=
NR_045669.1:n.391T>C
NR_045670.1:n.385+6T>C
NR_045671.1:n.361+6T>C
NM_016556.4:c.246T>C MANE Select	NP_057640.1:p.Ser82=
NM_001256014.2:c.57T>C	NP_001242943.1:p.Ser19=
NM_001256015.2:c.9T>C	NP_001242944.1:p.Ser3=
NM_001256016.2:c.9T>C	NP_001242945.1:p.Ser3=
NM_013290.7:c.246T>C	NP_037422.2:p.Ser82=
NR_045671.2:n.374+6T>C