Canonical Allele Identifier: CA2211968613
Gene: ACSM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438395C= , CM000678.2:g.20438395C= GRCh38
NC_000016.9:g.20449717C= , CM000678.1:g.20449717C= GRCh37
NC_000016.8:g.20357218C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+1028C= MANE Select ENSP00000327916.4:n.1536+1028C=
ENST00000577024.1:n.449+1028C=
NM_017888.2:c.1536+1028C= NP_060358.2:n.1536+1028C=
XM_006721055.2:c.1536+1028C= XP_006721118.1:n.1536+1028C=
XM_006721056.2:c.1536+1028C= XP_006721119.1:n.1536+1028C=
NM_001324371.1:c.1536+1028C= NP_001311300.1:n.1536+1028C=
NM_001324372.1:c.1536+1028C= NP_001311301.1:n.1536+1028C=
NM_017888.3:c.1536+1028C= MANE Select NP_060358.2:n.1536+1028C=
NM_001324371.2:c.1536+1028C= NP_001311300.1:n.1536+1028C=
NM_001324372.2:c.1536+1028C= NP_001311301.1:n.1536+1028C=