Canonical Allele Identifier: CA718921122
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs992655817
gnomAD v3: 16-20438193-C-A
gnomAD v4: 16-20438193-C-A
MyVariant Identifiers: chr16:g.20449515C>A (hg19) chr16:g.20438193C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438193C>A , CM000678.2:g.20438193C>A GRCh38
NC_000016.9:g.20449515C>A , CM000678.1:g.20449515C>A GRCh37
NC_000016.8:g.20357016C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+826C>A MANE Select ENSP00000327916.4:n.1536+826C>A
ENST00000577024.1:n.449+826C>A
NM_017888.2:c.1536+826C>A NP_060358.2:n.1536+826C>A
XM_006721055.2:c.1536+826C>A XP_006721118.1:n.1536+826C>A
XM_006721056.2:c.1536+826C>A XP_006721119.1:n.1536+826C>A
NM_001324371.1:c.1536+826C>A NP_001311300.1:n.1536+826C>A
NM_001324372.1:c.1536+826C>A NP_001311301.1:n.1536+826C>A
NM_017888.3:c.1536+826C>A MANE Select NP_060358.2:n.1536+826C>A
NM_001324371.2:c.1536+826C>A NP_001311300.1:n.1536+826C>A
NM_001324372.2:c.1536+826C>A NP_001311301.1:n.1536+826C>A
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