Canonical Allele Identifier: CA497146931
Gene: ACSF3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89212365T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145957T>G , CM000678.2:g.89145957T>G GRCh38
NC_000016.9:g.89212365T>G , CM000678.1:g.89212365T>G GRCh37
NC_000016.8:g.87739866T>G NCBI36
NG_031961.1:g.57149T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1521T>G ENSP00000320646.4:p.Val507=
ENST00000614302.5:c.1521T>G MANE Select ENSP00000479130.1:p.Val507=
ENST00000649953.1:c.1731T>G ENSP00000497456.1:p.Val577=
ENST00000317447.8:c.1521T>G ENSP00000320646.4:p.Val507=
ENST00000378345.8:c.726T>G ENSP00000367596.4:p.Val242=
ENST00000406948.7:c.1521T>G ENSP00000384627.3:p.Val507=
ENST00000535176.1:c.8T>G
ENST00000537116.5:n.647T>G
ENST00000537155.1:n.261T>G
ENST00000542688.5:c.*265T>G ENSP00000446281.1:n.*265T>G
ENST00000562204.1:n.494T>G
ENST00000614302.4:c.1521T>G ENSP00000479130.1:p.Val507=
NM_001127214.3:c.1521T>G NP_001120686.1:p.Val507=
NM_001243279.2:c.1521T>G NP_001230208.1:p.Val507=
NM_001284316.1:c.726T>G NP_001271245.1:p.Val242=
NM_174917.4:c.1521T>G NP_777577.2:p.Val507=
NR_045667.2:n.647T>G
NR_104293.1:n.1955T>G
XM_005256293.1:c.1521T>G XP_005256350.1:p.Val507=
XM_011522942.1:c.1521T>G XP_011521244.1:p.Val507=
XM_011522943.1:c.1521T>G XP_011521245.1:p.Val507=
XR_933239.1:n.1962T>G
XR_933240.1:n.1959T>G
XR_933241.1:n.1716T>G
NR_147928.1:n.1999T>G
NR_147929.1:n.1753T>G
XM_005256293.2:c.1521T>G XP_005256350.1:p.Val507=
XM_017023018.1:c.1521T>G XP_016878507.1:p.Val507=
XM_017023019.1:c.1521T>G XP_016878508.1:p.Val507=
XM_017023020.2:c.-3584T>G XP_016878509.1:n.-3584T>G
XM_017023022.1:c.654T>G XP_016878511.1:p.Val218=
XM_024450186.1:c.726T>G XP_024305954.1:p.Val242=
XM_024450187.1:c.726T>G XP_024305955.1:p.Val242=
XR_001751864.2:n.1768T>G
XR_001751865.1:n.1715T>G
XR_933240.3:n.1958T>G
NM_001127214.4:c.1521T>G NP_001120686.1:p.Val507=
NM_001243279.3:c.1521T>G MANE Select NP_001230208.1:p.Val507=
NM_001284316.2:c.726T>G NP_001271245.1:p.Val242=
NM_174917.5:c.1521T>G NP_777577.2:p.Val507=
NR_104293.2:n.1912T>G
NR_147928.2:n.1956T>G
NR_147929.2:n.1710T>G