Canonical Allele Identifier: CA121181347
Gene: CMYA5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.79799898G>A
GRCh37 chr5:g.79095721G>A
gnomAD v2:
5:79095721 G / A
gnomAD v3:
5:79799898 G / A
gnomAD v4:
chr5-79799898-G-A
Joint Max Group AF 0.13146668 (MID)
Genomes Max Group AF 0.14171048 (NFE)
Exomes Max Group AF 0.11312677 (NFE)
dbSNP:
7343
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79799898G>A , CM000667.2:g.79799898G>A GRCh38
NC_000005.9:g.79095721G>A , CM000667.1:g.79095721G>A GRCh37
NC_000005.8:g.79131477G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446378.3:c.*282G>A MANE Select ENSP00000394770.2:n.*282G>A
ENST00000446378.2:c.*282G>A ENSP00000394770.2:n.*282G>A
ENST00000506603.5:n.4220G>A
NM_153610.4:c.*282G>A NP_705838.3:n.*282G>A
XR_948242.1:n.12541G>A
XM_017009212.1:c.*282G>A XP_016864701.1:n.*282G>A
XR_948242.2:n.12670G>A
NM_153610.5:c.*282G>A MANE Select NP_705838.3:n.*282G>A
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