Canonical Allele Identifier: CA3689132
Gene: MAS1L HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29487185A>C
GRCh37 chr6:g.29454962A>C
Revel Score:
ENST00000377127 (MANE Select) 0.096
gnomAD v2:
6:29454962 A / C
gnomAD v3:
6:29487185 A / C
gnomAD v4:
chr6-29487185-A-C
Joint Max Group AF 0.0001097 (SAS)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00010711 (SAS)
ClinVar RCV:
RCV004188432
ClinVar Variation:
2344269
dbSNP:
199579080
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29487185A>C , CM000668.2:g.29487185A>C GRCh38
NC_000006.11:g.29454962A>C , CM000668.1:g.29454962A>C GRCh37
NC_000006.10:g.29562941A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377127.4:c.718T>G MANE Select ENSP00000366331.3:p.Cys240Gly
NM_052967.1:c.718T>G NP_443199.1:p.Cys240Gly
XR_926673.1:n.449+2022A>C
XR_926674.1:n.449+2022A>C
XR_926675.1:n.394+2022A>C
XR_926676.1:n.246+2022A>C
XR_926677.1:n.290+2022A>C
NM_052967.2:c.718T>G MANE Select NP_443199.1:p.Cys240Gly
XR_926674.2:n.496+2022A>C
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