Canonical Allele Identifier: CA718921101
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs1475356660
gnomAD v3: 16-20438125-G-A
gnomAD v4: 16-20438125-G-A
MyVariant Identifiers: chr16:g.20449447G>A (hg19) chr16:g.20438125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438125G>A , CM000678.2:g.20438125G>A GRCh38
NC_000016.9:g.20449447G>A , CM000678.1:g.20449447G>A GRCh37
NC_000016.8:g.20356948G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+758G>A MANE Select ENSP00000327916.4:n.1536+758G>A
ENST00000577024.1:n.449+758G>A
NM_017888.2:c.1536+758G>A NP_060358.2:n.1536+758G>A
XM_006721055.2:c.1536+758G>A XP_006721118.1:n.1536+758G>A
XM_006721056.2:c.1536+758G>A XP_006721119.1:n.1536+758G>A
NM_001324371.1:c.1536+758G>A NP_001311300.1:n.1536+758G>A
NM_001324372.1:c.1536+758G>A NP_001311301.1:n.1536+758G>A
NM_017888.3:c.1536+758G>A MANE Select NP_060358.2:n.1536+758G>A
NM_001324371.2:c.1536+758G>A NP_001311300.1:n.1536+758G>A
NM_001324372.2:c.1536+758G>A NP_001311301.1:n.1536+758G>A
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