Canonical Allele Identifier: CA15836874
Gene: HMG20A HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.77485290C>T
GRCh37 chr15:g.77777632C>T
gnomAD v2:
15:77777632 C / T
gnomAD v3:
15:77485290 C / T
gnomAD v4:
chr15-77485290-C-T
Joint Max Group AF 0.46132926 (AFR)
Genomes Max Group AF 0.46132926 (AFR)
Exomes Max Group AF 0.3283573 (NFE)
dbSNP:
7119
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77485290C>T , CM000677.2:g.77485290C>T GRCh38
NC_000015.9:g.77777632C>T , CM000677.1:g.77777632C>T GRCh37
NC_000015.8:g.75564687C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336216.9:c.*2327C>T MANE Select ENSP00000336856.4:n.*2327C>T
ENST00000336216.8:c.*2327C>T ENSP00000336856.4:n.*2327C>T
ENST00000381714.7:c.*2327C>T ENSP00000371133.3:n.*2327C>T
ENST00000558288.1:n.3241C>T
NM_001304504.1:c.*2327C>T NP_001291433.1:n.*2327C>T
NM_001304505.1:c.*2327C>T NP_001291434.1:n.*2327C>T
NM_018200.3:c.*2327C>T NP_060670.1:n.*2327C>T
XM_011521158.3:c.*6+5969C>T XP_011519460.1:n.*6+5969C>T
XR_001751049.2:n.1354+5969C>T
NM_001304504.2:c.*2327C>T MANE Select NP_001291433.1:n.*2327C>T
NM_001304505.2:c.*2327C>T NP_001291434.1:n.*2327C>T
NM_018200.4:c.*2327C>T NP_060670.1:n.*2327C>T
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