Canonical Allele Identifier: CA397148857

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212363G>C (hg19) ; chr16:g.89145955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145955G>C , CM000678.2:g.89145955G>C	GRCh38
NC_000016.9:g.89212363G>C , CM000678.1:g.89212363G>C	GRCh37
NC_000016.8:g.87739864G>C	NCBI36
NG_031961.1:g.57147G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1519G>C	ENSP00000320646.4:p.Val507Leu
ENST00000614302.5:c.1519G>C MANE Select	ENSP00000479130.1:p.Val507Leu
ENST00000649953.1:c.1729G>C	ENSP00000497456.1:p.Val577Leu
ENST00000317447.8:c.1519G>C	ENSP00000320646.4:p.Val507Leu
ENST00000378345.8:c.724G>C	ENSP00000367596.4:p.Val242Leu
ENST00000406948.7:c.1519G>C	ENSP00000384627.3:p.Val507Leu
ENST00000535176.1:c.6G>C
ENST00000537116.5:n.645G>C
ENST00000537155.1:n.259G>C
ENST00000542688.5:c.*263G>C	ENSP00000446281.1:n.*263G>C
ENST00000562204.1:n.492G>C
ENST00000614302.4:c.1519G>C	ENSP00000479130.1:p.Val507Leu
NM_001127214.3:c.1519G>C	NP_001120686.1:p.Val507Leu
NM_001243279.2:c.1519G>C	NP_001230208.1:p.Val507Leu
NM_001284316.1:c.724G>C	NP_001271245.1:p.Val242Leu
NM_174917.4:c.1519G>C	NP_777577.2:p.Val507Leu
NR_045667.2:n.645G>C
NR_104293.1:n.1953G>C
XM_005256293.1:c.1519G>C	XP_005256350.1:p.Val507Leu
XM_011522942.1:c.1519G>C	XP_011521244.1:p.Val507Leu
XM_011522943.1:c.1519G>C	XP_011521245.1:p.Val507Leu
XR_933239.1:n.1960G>C
XR_933240.1:n.1957G>C
XR_933241.1:n.1714G>C
NR_147928.1:n.1997G>C
NR_147929.1:n.1751G>C
XM_005256293.2:c.1519G>C	XP_005256350.1:p.Val507Leu
XM_017023018.1:c.1519G>C	XP_016878507.1:p.Val507Leu
XM_017023019.1:c.1519G>C	XP_016878508.1:p.Val507Leu
XM_017023020.2:c.-3586G>C	XP_016878509.1:n.-3586G>C
XM_017023022.1:c.652G>C	XP_016878511.1:p.Val218Leu
XM_024450186.1:c.724G>C	XP_024305954.1:p.Val242Leu
XM_024450187.1:c.724G>C	XP_024305955.1:p.Val242Leu
XR_001751864.2:n.1766G>C
XR_001751865.1:n.1713G>C
XR_933240.3:n.1956G>C
NM_001127214.4:c.1519G>C	NP_001120686.1:p.Val507Leu
NM_001243279.3:c.1519G>C MANE Select	NP_001230208.1:p.Val507Leu
NM_001284316.2:c.724G>C	NP_001271245.1:p.Val242Leu
NM_174917.5:c.1519G>C	NP_777577.2:p.Val507Leu
NR_104293.2:n.1910G>C
NR_147928.2:n.1954G>C
NR_147929.2:n.1708G>C