Canonical Allele Identifier: CA279270275

Gene: ACSM5

Linked Data

• dbSNP Id: rs375944177
• gnomAD v2: 16-20449430-G-A
• gnomAD v3: 16-20438108-G-A
• gnomAD v4: 16-20438108-G-A
• MyVariant Identifiers: chr16:g.20449430G>A (hg19) ; chr16:g.20438108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438108G>A , CM000678.2:g.20438108G>A	GRCh38
NC_000016.9:g.20449430G>A , CM000678.1:g.20449430G>A	GRCh37
NC_000016.8:g.20356931G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331849.8:c.1536+741G>A MANE Select	ENSP00000327916.4:n.1536+741G>A
ENST00000577024.1:n.449+741G>A
NM_017888.2:c.1536+741G>A	NP_060358.2:n.1536+741G>A
XM_006721055.2:c.1536+741G>A	XP_006721118.1:n.1536+741G>A
XM_006721056.2:c.1536+741G>A	XP_006721119.1:n.1536+741G>A
NM_001324371.1:c.1536+741G>A	NP_001311300.1:n.1536+741G>A
NM_001324372.1:c.1536+741G>A	NP_001311301.1:n.1536+741G>A
NM_017888.3:c.1536+741G>A MANE Select	NP_060358.2:n.1536+741G>A
NM_001324371.2:c.1536+741G>A	NP_001311300.1:n.1536+741G>A
NM_001324372.2:c.1536+741G>A	NP_001311301.1:n.1536+741G>A