Canonical Allele Identifier: CA448063446
Gene: MAML1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179793637A>T
GRCh37 chr5:g.179220638A>T
gnomAD v2:
5:179220638 A / T
gnomAD v3:
5:179793637 A / T
gnomAD v4:
chr5-179793637-A-T
Joint Max Group AF 0.00022318 (EAS)
Genomes Max Group AF 0.0001568 (EAS)
Exomes Max Group AF 0.00009709 (EAS)
dbSNP:
730012
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179793637A>T , CM000667.2:g.179793637A>T GRCh38
NC_000005.9:g.179220638A>T , CM000667.1:g.179220638A>T GRCh37
NC_000005.8:g.179153244A>T NCBI36
NG_028161.1:g.4653A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000503050.5:n.3685A>T
Search 100 bp 5'
Search 100 bp 3'