Canonical Allele Identifier: CA232764

Gene: ZMPSTE24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40281212T>C , CM000663.2:g.40281212T>C	GRCh38
NC_000001.10:g.40746884T>C , CM000663.1:g.40746884T>C	GRCh37
NC_000001.9:g.40519471T>C	NCBI36
NG_008695.1:g.28152T>C , LRG_212:g.28152T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005857.5:c.770-131T>C MANE Select	NP_005848.2:n.770-131T>C
ENST00000372759.4:c.770-131T>C MANE Select	ENSP00000361845.3:n.770-131T>C
NM_005857.4:c.770-131T>C	NP_005848.2:n.770-131T>C
ENST00000372759.3:c.770-131T>C	ENSP00000361845.3:n.770-131T>C
ENST00000674703.1:c.*611-131T>C	ENSP00000501674.1:n.*611-131T>C
ENST00000675754.1:c.*512-131T>C	ENSP00000502555.1:n.*512-131T>C
ENST00000675937.1:c.*15-131T>C	ENSP00000502683.1:n.*15-131T>C
XM_011540486.1:c.521-131T>C	XP_011538788.1:n.521-131T>C
XR_001736906.2:n.1157-131T>C