Canonical Allele Identifier: CA621259775

Gene: ACSM5

Linked Data

• dbSNP Id: rs1246731389
• gnomAD v2: 16-20449735-C-T
• gnomAD v3: 16-20438413-C-T
• gnomAD v4: 16-20438413-C-T
• MyVariant Identifiers: chr16:g.20449735C>T (hg19) ; chr16:g.20438413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438413C>T , CM000678.2:g.20438413C>T	GRCh38
NC_000016.9:g.20449735C>T , CM000678.1:g.20449735C>T	GRCh37
NC_000016.8:g.20357236C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331849.8:c.1536+1046C>T MANE Select	ENSP00000327916.4:n.1536+1046C>T
ENST00000577024.1:n.449+1046C>T
NM_017888.2:c.1536+1046C>T	NP_060358.2:n.1536+1046C>T
XM_006721055.2:c.1536+1046C>T	XP_006721118.1:n.1536+1046C>T
XM_006721056.2:c.1536+1046C>T	XP_006721119.1:n.1536+1046C>T
NM_001324371.1:c.1536+1046C>T	NP_001311300.1:n.1536+1046C>T
NM_001324372.1:c.1536+1046C>T	NP_001311301.1:n.1536+1046C>T
NM_017888.3:c.1536+1046C>T MANE Select	NP_060358.2:n.1536+1046C>T
NM_001324371.2:c.1536+1046C>T	NP_001311300.1:n.1536+1046C>T
NM_001324372.2:c.1536+1046C>T	NP_001311301.1:n.1536+1046C>T