Canonical Allele Identifier: CA2211968600

Gene: ACSM5

Linked Data

• dbSNP Id: rs1967244278

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438365A>G , CM000678.2:g.20438365A>G	GRCh38
NC_000016.9:g.20449687A>G , CM000678.1:g.20449687A>G	GRCh37
NC_000016.8:g.20357188A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331849.8:c.1536+998A>G MANE Select	ENSP00000327916.4:n.1536+998A>G
ENST00000577024.1:n.449+998A>G
NM_017888.2:c.1536+998A>G	NP_060358.2:n.1536+998A>G
XM_006721055.2:c.1536+998A>G	XP_006721118.1:n.1536+998A>G
XM_006721056.2:c.1536+998A>G	XP_006721119.1:n.1536+998A>G
NM_001324371.1:c.1536+998A>G	NP_001311300.1:n.1536+998A>G
NM_001324372.1:c.1536+998A>G	NP_001311301.1:n.1536+998A>G
NM_017888.3:c.1536+998A>G MANE Select	NP_060358.2:n.1536+998A>G
NM_001324371.2:c.1536+998A>G	NP_001311300.1:n.1536+998A>G
NM_001324372.2:c.1536+998A>G	NP_001311301.1:n.1536+998A>G