Canonical Allele Identifier: CA15398396
Gene: CMYA5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.79762819A>T
GRCh37 chr5:g.79058642A>T
gnomAD v2:
5:79058642 A / T
gnomAD v3:
5:79762819 A / T
gnomAD v4:
chr5-79762819-A-T
Joint Max Group AF 0.35590789 (EAS)
Genomes Max Group AF 0.33969132 (EAS)
Exomes Max Group AF 0.35711834 (EAS)
dbSNP:
259127
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79762819A>T , CM000667.2:g.79762819A>T GRCh38
NC_000005.9:g.79058642A>T , CM000667.1:g.79058642A>T GRCh37
NC_000005.8:g.79094398A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446378.3:c.11408-243A>T MANE Select ENSP00000394770.2:n.11408-243A>T
ENST00000446378.2:c.11408-243A>T ENSP00000394770.2:n.11408-243A>T
ENST00000505466.1:n.298-243A>T
ENST00000506603.5:n.2893A>T
NM_153610.4:c.11408-243A>T NP_705838.3:n.11408-243A>T
XR_948242.1:n.11457-243A>T
XM_017009212.1:c.11192-243A>T XP_016864701.1:n.11192-243A>T
XR_001742036.2:n.12282+188A>T
XR_948242.2:n.11586-243A>T
NM_153610.5:c.11408-243A>T MANE Select NP_705838.3:n.11408-243A>T
Search 100 bp 5'
Search 100 bp 3'