Canonical Allele Identifier: CA397142337

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89120877C>G , CM000678.2:g.89120877C>G	GRCh38
NC_000016.9:g.89187285C>G , CM000678.1:g.89187285C>G	GRCh37
NC_000016.8:g.87714786C>G	NCBI36
NG_031961.1:g.32069C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1203C>G MANE Select	NP_001230208.1:p.Tyr401Ter
ENST00000614302.5:c.1203C>G MANE Select	ENSP00000479130.1:p.Tyr401Ter
NM_001127214.3:c.1203C>G	NP_001120686.1:p.Tyr401Ter
NM_001127214.4:c.1203C>G	NP_001120686.1:p.Tyr401Ter
NM_001243279.2:c.1203C>G	NP_001230208.1:p.Tyr401Ter
NM_001284316.1:c.408C>G	NP_001271245.1:p.Tyr136Ter
NM_001284316.2:c.408C>G	NP_001271245.1:p.Tyr136Ter
NM_174917.4:c.1203C>G	NP_777577.2:p.Tyr401Ter
NM_174917.5:c.1203C>G	NP_777577.2:p.Tyr401Ter
NR_104293.1:n.1584C>G
NR_104293.2:n.1541C>G
NR_147928.1:n.1681C>G
NR_147928.2:n.1638C>G
NR_147929.1:n.1435C>G
NR_147929.2:n.1392C>G
ENST00000317447.8:c.1203C>G	ENSP00000320646.4:p.Tyr401Ter
ENST00000317447.9:c.1203C>G	ENSP00000320646.4:p.Tyr401Ter
ENST00000378345.8:c.408C>G	ENSP00000367596.4:p.Tyr136Ter
ENST00000406948.7:c.1203C>G	ENSP00000384627.3:p.Tyr401Ter
ENST00000538340.5:c.379C>G	ENSP00000445870.1:p.His127Asp
ENST00000540697.5:c.408C>G	ENSP00000445397.1:p.Tyr136Ter
ENST00000542688.5:c.1054C>G	ENSP00000446281.1:p.His352Asp
ENST00000543676.1:c.445C>G
ENST00000544543.5:c.408C>G	ENSP00000442781.1:p.Tyr136Ter
ENST00000562204.1:n.123C>G
ENST00000614302.4:c.1203C>G	ENSP00000479130.1:p.Tyr401Ter
ENST00000649953.1:c.1413C>G	ENSP00000497456.1:p.Tyr471Ter
XM_005256293.1:c.1203C>G	XP_005256350.1:p.Tyr401Ter
XM_005256293.2:c.1203C>G	XP_005256350.1:p.Tyr401Ter
XM_011522942.1:c.1203C>G	XP_011521244.1:p.Tyr401Ter
XM_011522943.1:c.1203C>G	XP_011521245.1:p.Tyr401Ter
XM_017023018.1:c.1203C>G	XP_016878507.1:p.Tyr401Ter
XM_017023019.1:c.1203C>G	XP_016878508.1:p.Tyr401Ter
XM_017023020.2:c.-3955C>G	XP_016878509.1:n.-3955C>G
XM_017023021.1:c.1203C>G	XP_016878510.1:p.Tyr401Ter
XM_017023022.1:c.336C>G	XP_016878511.1:p.Tyr112Ter
XM_024450186.1:c.408C>G	XP_024305954.1:p.Tyr136Ter
XM_024450187.1:c.408C>G	XP_024305955.1:p.Tyr136Ter
XR_001751864.2:n.1397C>G
XR_001751865.1:n.1397C>G
XR_933238.1:n.1547C>G
XR_933238.2:n.1546C>G
XR_933239.1:n.1644C>G
XR_933240.1:n.1641C>G
XR_933240.3:n.1640C>G
XR_933241.1:n.1398C>G