Canonical Allele Identifier: CA2592570182
Gene: ACSM5 HGNC NCBI

Linked Data

dbSNP Id: rs2141663246
gnomAD v3: 16-20438211-G-A
gnomAD v4: 16-20438211-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20438211G>A , CM000678.2:g.20438211G>A GRCh38
NC_000016.9:g.20449533G>A , CM000678.1:g.20449533G>A GRCh37
NC_000016.8:g.20357034G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000331849.8:c.1536+844G>A MANE Select ENSP00000327916.4:n.1536+844G>A
ENST00000577024.1:n.449+844G>A
NM_017888.2:c.1536+844G>A NP_060358.2:n.1536+844G>A
XM_006721055.2:c.1536+844G>A XP_006721118.1:n.1536+844G>A
XM_006721056.2:c.1536+844G>A XP_006721119.1:n.1536+844G>A
NM_001324371.1:c.1536+844G>A NP_001311300.1:n.1536+844G>A
NM_001324372.1:c.1536+844G>A NP_001311301.1:n.1536+844G>A
NM_017888.3:c.1536+844G>A MANE Select NP_060358.2:n.1536+844G>A
NM_001324371.2:c.1536+844G>A NP_001311300.1:n.1536+844G>A
NM_001324372.2:c.1536+844G>A NP_001311301.1:n.1536+844G>A
Search 100 bp 5'
Search 100 bp 3'