Canonical Allele Identifier: CA412265833
Gene: ASMT HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.1636446T>G
GRCh37 chrX:g.1755339T>G
Revel Score:
ENST00000381241 (MANE Select) 0.401
ENST00000381229 0.401
ENST00000381233 0.401
ENST00000432523 0.401
ClinVar RCV:
RCV003490484
ClinVar Variation:
2688615
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.1636446T>G , CM000685.2:g.1636446T>G GRCh38
NC_000023.10:g.1755339T>G , CM000685.1:g.1755339T>G GRCh37
NC_000023.9:g.1715339T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381241.9:c.796T>G MANE Select ENSP00000370639.3:p.Phe266Val
ENST00000381229.9:c.712T>G ENSP00000370627.4:p.Phe238Val
ENST00000381233.8:c.571T>G ENSP00000370631.3:p.Phe191Val
ENST00000381241.8:c.796T>G ENSP00000370639.3:p.Phe266Val
ENST00000432523.6:c.49T>G ENSP00000392053.1:p.Phe17Val
ENST00000509780.6:n.493T>G
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