Canonical Allele Identifier: CA15888468
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs11647589

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438294A>G , CM000678.2:g.20438294A>G GRCh38
NC_000016.9:g.20449616A>G , CM000678.1:g.20449616A>G GRCh37
NC_000016.8:g.20357117A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331849.8:c.1536+927A>G MANE Select ENSP00000327916.4:n.1536+927A>G
ENST00000577024.1:n.449+927A>G
NM_017888.2:c.1536+927A>G NP_060358.2:n.1536+927A>G
XM_006721055.2:c.1536+927A>G XP_006721118.1:n.1536+927A>G
XM_006721056.2:c.1536+927A>G XP_006721119.1:n.1536+927A>G
NM_001324371.1:c.1536+927A>G NP_001311300.1:n.1536+927A>G
NM_001324372.1:c.1536+927A>G NP_001311301.1:n.1536+927A>G
NM_017888.3:c.1536+927A>G MANE Select NP_060358.2:n.1536+927A>G
NM_001324371.2:c.1536+927A>G NP_001311300.1:n.1536+927A>G
NM_001324372.2:c.1536+927A>G NP_001311301.1:n.1536+927A>G