Canonical Allele Identifier: CA718921159
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs1441943190
MyVariant Identifiers: chr16:g.20449581T>C (hg19) chr16:g.20438259T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438259T>C , CM000678.2:g.20438259T>C GRCh38
NC_000016.9:g.20449581T>C , CM000678.1:g.20449581T>C GRCh37
NC_000016.8:g.20357082T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331849.8:c.1536+892T>C MANE Select ENSP00000327916.4:n.1536+892T>C
ENST00000577024.1:n.449+892T>C
NM_017888.2:c.1536+892T>C NP_060358.2:n.1536+892T>C
XM_006721055.2:c.1536+892T>C XP_006721118.1:n.1536+892T>C
XM_006721056.2:c.1536+892T>C XP_006721119.1:n.1536+892T>C
NM_001324371.1:c.1536+892T>C NP_001311300.1:n.1536+892T>C
NM_001324372.1:c.1536+892T>C NP_001311301.1:n.1536+892T>C
NM_017888.3:c.1536+892T>C MANE Select NP_060358.2:n.1536+892T>C
NM_001324371.2:c.1536+892T>C NP_001311300.1:n.1536+892T>C
NM_001324372.2:c.1536+892T>C NP_001311301.1:n.1536+892T>C
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