Canonical Allele Identifier: CA397148782
Community Standard Title: NM_001243279.3(ACSF3):c.1502-2A>G
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145936A>G , CM000678.2:g.89145936A>G GRCh38
NC_000016.9:g.89212344A>G , CM000678.1:g.89212344A>G GRCh37
NC_000016.8:g.87739845A>G NCBI36
NG_031961.1:g.57128A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001243279.3:c.1502-2A>G MANE Select NP_001230208.1:n.1502-2A>G
ENST00000614302.5:c.1502-2A>G MANE Select ENSP00000479130.1:n.1502-2A>G
NM_001127214.3:c.1502-2A>G NP_001120686.1:n.1502-2A>G
NM_001127214.4:c.1502-2A>G NP_001120686.1:n.1502-2A>G
NM_001243279.2:c.1502-2A>G NP_001230208.1:n.1502-2A>G
NM_001284316.1:c.707-2A>G NP_001271245.1:n.707-2A>G
NM_001284316.2:c.707-2A>G NP_001271245.1:n.707-2A>G
NM_174917.4:c.1502-2A>G NP_777577.2:n.1502-2A>G
NM_174917.5:c.1502-2A>G NP_777577.2:n.1502-2A>G
NR_045667.2:n.628-2A>G
NR_104293.1:n.1936-2A>G
NR_104293.2:n.1893-2A>G
NR_147928.1:n.1980-2A>G
NR_147928.2:n.1937-2A>G
NR_147929.1:n.1734-2A>G
NR_147929.2:n.1691-2A>G
ENST00000317447.8:c.1502-2A>G ENSP00000320646.4:n.1502-2A>G
ENST00000317447.9:c.1502-2A>G ENSP00000320646.4:n.1502-2A>G
ENST00000378345.8:c.707-2A>G ENSP00000367596.4:n.707-2A>G
ENST00000406948.7:c.1502-2A>G ENSP00000384627.3:n.1502-2A>G
ENST00000537116.5:n.628-2A>G
ENST00000537155.1:n.242-2A>G
ENST00000542688.5:c.*246-2A>G ENSP00000446281.1:n.*246-2A>G
ENST00000562204.1:n.475-2A>G
ENST00000614302.4:c.1502-2A>G ENSP00000479130.1:n.1502-2A>G
ENST00000649953.1:c.1712-2A>G ENSP00000497456.1:n.1712-2A>G
XM_005256293.1:c.1502-2A>G XP_005256350.1:n.1502-2A>G
XM_005256293.2:c.1502-2A>G XP_005256350.1:n.1502-2A>G
XM_011522942.1:c.1502-2A>G XP_011521244.1:n.1502-2A>G
XM_011522943.1:c.1502-2A>G XP_011521245.1:n.1502-2A>G
XM_017023018.1:c.1502-2A>G XP_016878507.1:n.1502-2A>G
XM_017023019.1:c.1502-2A>G XP_016878508.1:n.1502-2A>G
XM_017023020.2:c.-3603-2A>G XP_016878509.1:n.-3603-2A>G
XM_017023022.1:c.635-2A>G XP_016878511.1:n.635-2A>G
XM_024450186.1:c.707-2A>G XP_024305954.1:n.707-2A>G
XM_024450187.1:c.707-2A>G XP_024305955.1:n.707-2A>G
XR_001751864.2:n.1749-2A>G
XR_001751865.1:n.1696-2A>G
XR_933239.1:n.1943-2A>G
XR_933240.1:n.1940-2A>G
XR_933240.3:n.1939-2A>G
XR_933241.1:n.1697-2A>G