Canonical Allele Identifier: CA2212010439
Gene: ACSM2A HGNC NCBI

Linked Data

dbSNP Id: rs1230004705

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20479781A>C , CM000678.2:g.20479781A>C GRCh38
NC_000016.9:g.20491103A>C , CM000678.1:g.20491103A>C GRCh37
NC_000016.8:g.20398604A>C NCBI36
NG_054721.1:g.33321A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000573854.6:c.1282-792A>C MANE Select ENSP00000459451.1:n.1282-792A>C
ENST00000219054.10:c.1282-792A>C ENSP00000219054.6:n.1282-792A>C
ENST00000396104.2:c.1282-792A>C ENSP00000379411.2:n.1282-792A>C
ENST00000417235.6:c.1045-792A>C ENSP00000392169.2:n.1045-792A>C
ENST00000570698.5:n.1457-792A>C
ENST00000572843.5:n.1477-792A>C
ENST00000573854.5:c.1282-792A>C ENSP00000459451.1:n.1282-792A>C
ENST00000575558.5:n.1211-792A>C
ENST00000575690.5:c.1282-792A>C ENSP00000460349.1:n.1282-792A>C
ENST00000576101.1:n.1034-792A>C
NM_001010845.2:c.1282-792A>C NP_001010845.1:n.1282-792A>C
NM_001308169.1:c.1045-792A>C NP_001295098.1:n.1045-792A>C
NM_001308172.1:c.1282-792A>C NP_001295101.1:n.1282-792A>C
NM_001308954.1:c.1282-792A>C NP_001295883.1:n.1282-792A>C
XR_243259.2:n.2282-792A>C
XM_017022923.1:c.1282-792A>C XP_016878412.1:n.1282-792A>C
XM_017022924.2:c.*707A>C XP_016878413.1:n.*707A>C
XM_017022925.1:c.1045-792A>C XP_016878414.1:n.1045-792A>C
XM_017022926.2:c.595-792A>C XP_016878415.1:n.595-792A>C
XR_001751834.2:n.2491-792A>C
NM_001308172.2:c.1282-792A>C MANE Select NP_001295101.1:n.1282-792A>C
NM_001308169.2:c.1045-792A>C NP_001295098.1:n.1045-792A>C
NM_001308954.2:c.1282-792A>C NP_001295883.1:n.1282-792A>C