Canonical Allele Identifier: CA7323105

Gene: PRIMA1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93779303A>G , CM000676.2:g.93779303A>G	GRCh38
NC_000014.8:g.94245649A>G , CM000676.1:g.94245649A>G	GRCh37
NC_000014.7:g.93315402A>G	NCBI36
NG_009069.1:g.14118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393140.6:c.102T>C MANE Select	ENSP00000376848.1:p.His34=
ENST00000316227.3:c.102T>C	ENSP00000320948.3:p.His34=
ENST00000393140.5:c.102T>C	ENSP00000376848.1:p.His34=
ENST00000393143.5:c.102T>C	ENSP00000376851.1:p.His34=
ENST00000477603.5:c.102T>C	ENSP00000434370.1:p.His34=
NM_178013.3:c.102T>C	NP_821092.1:p.His34=
XM_011536456.1:c.102T>C	XP_011534758.1:p.His34=
XM_011536456.2:c.102T>C	XP_011534758.1:p.His34=
XM_024449482.1:c.102T>C	XP_024305250.1:p.His34=
XR_002957532.1:n.210T>C
XR_002957533.1:n.210T>C
NM_178013.4:c.102T>C MANE Select	NP_821092.1:p.His34=