Canonical Allele Identifier: CA10576154
Gene: MAML1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.179793637A>C
GRCh37 chr5:g.179220638A>C
gnomAD v2:
5:179220638 A / C
gnomAD v3:
5:179793637 A / C
gnomAD v4:
chr5-179793637-A-C
Joint Max Group AF 0.30270151 (NFE)
Genomes Max Group AF 0.29314618 (NFE)
Exomes Max Group AF 0.3032923 (NFE)
dbSNP:
730012
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000503050.5:n.3685A>C
Search 100 bp 5'
Search 100 bp 3'