Canonical Allele Identifier: CA397148064

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211708G>C (hg19) ; chr16:g.89145300G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145300G>C , CM000678.2:g.89145300G>C	GRCh38
NC_000016.9:g.89211708G>C , CM000678.1:g.89211708G>C	GRCh37
NC_000016.8:g.87739209G>C	NCBI36
NG_031961.1:g.56492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1400G>C	ENSP00000320646.4:p.Trp467Ser
ENST00000614302.5:c.1400G>C MANE Select	ENSP00000479130.1:p.Trp467Ser
ENST00000649953.1:c.1610G>C	ENSP00000497456.1:p.Trp537Ser
ENST00000317447.8:c.1400G>C	ENSP00000320646.4:p.Trp467Ser
ENST00000378345.8:c.605G>C	ENSP00000367596.4:p.Trp202Ser
ENST00000406948.7:c.1400G>C	ENSP00000384627.3:p.Trp467Ser
ENST00000537116.5:n.526G>C
ENST00000537155.1:n.140G>C
ENST00000542688.5:c.*144G>C	ENSP00000446281.1:n.*144G>C
ENST00000544543.5:c.605G>C	ENSP00000442781.1:p.Trp202Ser
ENST00000562204.1:n.373G>C
ENST00000614302.4:c.1400G>C	ENSP00000479130.1:p.Trp467Ser
NM_001127214.3:c.1400G>C	NP_001120686.1:p.Trp467Ser
NM_001243279.2:c.1400G>C	NP_001230208.1:p.Trp467Ser
NM_001284316.1:c.605G>C	NP_001271245.1:p.Trp202Ser
NM_174917.4:c.1400G>C	NP_777577.2:p.Trp467Ser
NR_045667.2:n.526G>C
NR_104293.1:n.1834G>C
XM_005256293.1:c.1400G>C	XP_005256350.1:p.Trp467Ser
XM_011522942.1:c.1400G>C	XP_011521244.1:p.Trp467Ser
XM_011522943.1:c.1400G>C	XP_011521245.1:p.Trp467Ser
XR_933239.1:n.1841G>C
XR_933240.1:n.1838G>C
XR_933241.1:n.1595G>C
NR_147928.1:n.1878G>C
NR_147929.1:n.1632G>C
XM_005256293.2:c.1400G>C	XP_005256350.1:p.Trp467Ser
XM_017023018.1:c.1400G>C	XP_016878507.1:p.Trp467Ser
XM_017023019.1:c.1400G>C	XP_016878508.1:p.Trp467Ser
XM_017023020.2:c.-3705G>C	XP_016878509.1:n.-3705G>C
XM_017023022.1:c.533G>C	XP_016878511.1:p.Trp178Ser
XM_024450186.1:c.605G>C	XP_024305954.1:p.Trp202Ser
XM_024450187.1:c.605G>C	XP_024305955.1:p.Trp202Ser
XR_001751864.2:n.1647G>C
XR_001751865.1:n.1594G>C
XR_933240.3:n.1837G>C
NM_001127214.4:c.1400G>C	NP_001120686.1:p.Trp467Ser
NM_001243279.3:c.1400G>C MANE Select	NP_001230208.1:p.Trp467Ser
NM_001284316.2:c.605G>C	NP_001271245.1:p.Trp202Ser
NM_174917.5:c.1400G>C	NP_777577.2:p.Trp467Ser
NR_104293.2:n.1791G>C
NR_147928.2:n.1835G>C
NR_147929.2:n.1589G>C