Canonical Allele Identifier: CA317996163
Gene: MIR99AHG HGNC NCBI
COSMIC:
COSN6689230 (not active)
MyVariant.info:
GRCh38 chr21:g.16110813A>T
GRCh37 chr21:g.17483133A>T
gnomAD v2:
21:17483133 A / T
gnomAD v3:
21:16110813 A / T
gnomAD v4:
chr21-16110813-A-T
Joint Max Group AF 0.40106685 (AFR)
Genomes Max Group AF 0.40106685 (AFR)
dbSNP:
2823615
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.16110813A>T , CM000683.2:g.16110813A>T GRCh38
NC_000021.8:g.17483133A>T , CM000683.1:g.17483133A>T GRCh37
NC_000021.7:g.16405004A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_027790.2:n.312+39415A>T
NR_111004.1:n.285+39415A>T
NR_111005.1:n.285+39415A>T
NR_027790.3:n.312+39415A>T
NR_111004.2:n.285+39415A>T
NR_111005.2:n.285+39415A>T
NR_136541.1:n.365+39415A>T
NR_136542.1:n.365+39415A>T
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