Canonical Allele Identifier: CA3322897
Gene: CMYA5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.79738839C>T
GRCh37 chr5:g.79034662C>T
gnomAD v2:
5:79034662 C / T
gnomAD v3:
5:79738839 C / T
gnomAD v4:
chr5-79738839-C-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000742 (AMR)
ClinVar RCV:
RCV003428548
ClinVar Variation:
2655564
dbSNP:
3828611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79738839C>T , CM000667.2:g.79738839C>T GRCh38
NC_000005.9:g.79034662C>T , CM000667.1:g.79034662C>T GRCh37
NC_000005.8:g.79070418C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446378.3:c.10074C>T MANE Select ENSP00000394770.2:p.His3358=
ENST00000446378.2:c.10074C>T ENSP00000394770.2:p.His3358=
ENST00000506603.5:n.698C>T
NM_153610.4:c.10074C>T NP_705838.3:p.His3358=
XR_948242.1:n.10146C>T
XM_017009212.1:c.9858C>T XP_016864701.1:p.His3286=
XR_001742036.2:n.10275C>T
XR_948242.2:n.10275C>T
NM_153610.5:c.10074C>T MANE Select NP_705838.3:p.His3358=
Search 100 bp 5'
Search 100 bp 3'