Canonical Allele Identifier: CA718921222
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs1317121396

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438416G>C , CM000678.2:g.20438416G>C GRCh38
NC_000016.9:g.20449738G>C , CM000678.1:g.20449738G>C GRCh37
NC_000016.8:g.20357239G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331849.8:c.1536+1049G>C MANE Select ENSP00000327916.4:n.1536+1049G>C
ENST00000577024.1:n.449+1049G>C
NM_017888.2:c.1536+1049G>C NP_060358.2:n.1536+1049G>C
XM_006721055.2:c.1536+1049G>C XP_006721118.1:n.1536+1049G>C
XM_006721056.2:c.1536+1049G>C XP_006721119.1:n.1536+1049G>C
NM_001324371.1:c.1536+1049G>C NP_001311300.1:n.1536+1049G>C
NM_001324372.1:c.1536+1049G>C NP_001311301.1:n.1536+1049G>C
NM_017888.3:c.1536+1049G>C MANE Select NP_060358.2:n.1536+1049G>C
NM_001324371.2:c.1536+1049G>C NP_001311300.1:n.1536+1049G>C
NM_001324372.2:c.1536+1049G>C NP_001311301.1:n.1536+1049G>C