Canonical Allele Identifier: CA10610157

Gene: ZMPSTE24

Linked Data

• ClinVar Variation Id: 297255
• ClinVar RCV Id: RCV000290774 ; RCV000345711
• dbSNP Id: rs151221982
• gnomAD v2: 1-40723772-A-C
• gnomAD v3: 1-40258100-A-C
• gnomAD v4: 1-40258100-A-C
• MyVariant Identifiers: chr1:g.40723772A>C (hg19) ; chr1:g.40258100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40258100A>C , CM000663.2:g.40258100A>C	GRCh38
NC_000001.10:g.40723772A>C , CM000663.1:g.40723772A>C	GRCh37
NC_000001.9:g.40496359A>C	NCBI36
NG_008695.1:g.5040A>C , LRG_212:g.5040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674703.1:c.-172A>C	ENSP00000501674.1:n.-172A>C
ENST00000675937.1:c.-172A>C	ENSP00000502683.1:n.-172A>C
NM_005857.4:c.-172A>C	NP_005848.2:n.-172A>C
XM_011540487.1:c.-172A>C	XP_011538789.1:n.-172A>C
XR_001736906.2:n.23A>C