Canonical Allele Identifier: CA7061058

Gene: PROZ PCID2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113170486C>T , CM000675.2:g.113170486C>T	GRCh38
NC_000013.10:g.113824800C>T , CM000675.1:g.113824800C>T	GRCh37
NC_000013.9:g.112872801C>T	NCBI36
NG_031993.1:g.16833C>T
NG_031993.2:g.16833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342783.5:c.713C>T (PROZ)	ENSP00000344458.4:p.Thr238Ile
ENST00000375547.7:c.647C>T (PROZ) MANE Select	ENSP00000364697.2:p.Thr216Ile
ENST00000342783.4:c.713C>T (PROZ)	ENSP00000344458.4:p.Thr238Ile
ENST00000375547.6:c.647C>T (PROZ)	ENSP00000364697.2:p.Thr216Ile
ENST00000493630.1:n.380C>T (PROZ)
NM_001256134.1:c.713C>T (PROZ)	NP_001243063.1:p.Thr238Ile
NM_003891.2:c.647C>T (PROZ)	NP_003882.1:p.Thr216Ile
XM_011537525.1:c.857C>T (PROZ)	XP_011535827.1:p.Thr286Ile
XR_944298.1:n.229-398G>A
XM_017020812.1:c.848C>T (PROZ)	XP_016876301.1:p.Thr283Ile
XM_017020813.1:c.713C>T (PROZ)	XP_016876302.1:p.Thr238Ile
XR_001749631.1:n.2654-398G>A (PCID2)
XR_001749708.1:n.1163C>T (PROZ)
XR_001749709.1:n.1301C>T (PROZ)
NM_003891.3:c.647C>T (PROZ) MANE Select	NP_003882.1:p.Thr216Ile
NM_001256134.2:c.713C>T (PROZ)	NP_001243063.1:p.Thr238Ile