Canonical Allele Identifier: CA397148091

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211723C>T (hg19) ; chr16:g.89145315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145315C>T , CM000678.2:g.89145315C>T	GRCh38
NC_000016.9:g.89211723C>T , CM000678.1:g.89211723C>T	GRCh37
NC_000016.8:g.87739224C>T	NCBI36
NG_031961.1:g.56507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1415C>T	ENSP00000320646.4:p.Thr472Ile
ENST00000614302.5:c.1415C>T MANE Select	ENSP00000479130.1:p.Thr472Ile
ENST00000649953.1:c.1625C>T	ENSP00000497456.1:p.Thr542Ile
ENST00000317447.8:c.1415C>T	ENSP00000320646.4:p.Thr472Ile
ENST00000378345.8:c.620C>T	ENSP00000367596.4:p.Thr207Ile
ENST00000406948.7:c.1415C>T	ENSP00000384627.3:p.Thr472Ile
ENST00000537116.5:n.541C>T
ENST00000537155.1:n.155C>T
ENST00000542688.5:c.*159C>T	ENSP00000446281.1:n.*159C>T
ENST00000544543.5:c.620C>T	ENSP00000442781.1:p.Thr207Ile
ENST00000562204.1:n.388C>T
ENST00000614302.4:c.1415C>T	ENSP00000479130.1:p.Thr472Ile
NM_001127214.3:c.1415C>T	NP_001120686.1:p.Thr472Ile
NM_001243279.2:c.1415C>T	NP_001230208.1:p.Thr472Ile
NM_001284316.1:c.620C>T	NP_001271245.1:p.Thr207Ile
NM_174917.4:c.1415C>T	NP_777577.2:p.Thr472Ile
NR_045667.2:n.541C>T
NR_104293.1:n.1849C>T
XM_005256293.1:c.1415C>T	XP_005256350.1:p.Thr472Ile
XM_011522942.1:c.1415C>T	XP_011521244.1:p.Thr472Ile
XM_011522943.1:c.1415C>T	XP_011521245.1:p.Thr472Ile
XR_933239.1:n.1856C>T
XR_933240.1:n.1853C>T
XR_933241.1:n.1610C>T
NR_147928.1:n.1893C>T
NR_147929.1:n.1647C>T
XM_005256293.2:c.1415C>T	XP_005256350.1:p.Thr472Ile
XM_017023018.1:c.1415C>T	XP_016878507.1:p.Thr472Ile
XM_017023019.1:c.1415C>T	XP_016878508.1:p.Thr472Ile
XM_017023020.2:c.-3690C>T	XP_016878509.1:n.-3690C>T
XM_017023022.1:c.548C>T	XP_016878511.1:p.Thr183Ile
XM_024450186.1:c.620C>T	XP_024305954.1:p.Thr207Ile
XM_024450187.1:c.620C>T	XP_024305955.1:p.Thr207Ile
XR_001751864.2:n.1662C>T
XR_001751865.1:n.1609C>T
XR_933240.3:n.1852C>T
NM_001127214.4:c.1415C>T	NP_001120686.1:p.Thr472Ile
NM_001243279.3:c.1415C>T MANE Select	NP_001230208.1:p.Thr472Ile
NM_001284316.2:c.620C>T	NP_001271245.1:p.Thr207Ile
NM_174917.5:c.1415C>T	NP_777577.2:p.Thr472Ile
NR_104293.2:n.1806C>T
NR_147928.2:n.1850C>T
NR_147929.2:n.1604C>T