Canonical Allele Identifier: CA397148908

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89145966-G-C
• MyVariant Identifiers: chr16:g.89212374G>C (hg19) ; chr16:g.89145966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145966G>C , CM000678.2:g.89145966G>C	GRCh38
NC_000016.9:g.89212374G>C , CM000678.1:g.89212374G>C	GRCh37
NC_000016.8:g.87739875G>C	NCBI36
NG_031961.1:g.57158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1530G>C	ENSP00000320646.4:p.Met510Ile
ENST00000614302.5:c.1530G>C MANE Select	ENSP00000479130.1:p.Met510Ile
ENST00000649953.1:c.1740G>C	ENSP00000497456.1:p.Met580Ile
ENST00000317447.8:c.1530G>C	ENSP00000320646.4:p.Met510Ile
ENST00000378345.8:c.735G>C	ENSP00000367596.4:p.Met245Ile
ENST00000406948.7:c.1530G>C	ENSP00000384627.3:p.Met510Ile
ENST00000535176.1:c.17G>C
ENST00000537116.5:n.656G>C
ENST00000537155.1:n.270G>C
ENST00000542688.5:c.*274G>C	ENSP00000446281.1:n.*274G>C
ENST00000562204.1:n.503G>C
ENST00000614302.4:c.1530G>C	ENSP00000479130.1:p.Met510Ile
NM_001127214.3:c.1530G>C	NP_001120686.1:p.Met510Ile
NM_001243279.2:c.1530G>C	NP_001230208.1:p.Met510Ile
NM_001284316.1:c.735G>C	NP_001271245.1:p.Met245Ile
NM_174917.4:c.1530G>C	NP_777577.2:p.Met510Ile
NR_045667.2:n.656G>C
NR_104293.1:n.1964G>C
XM_005256293.1:c.1530G>C	XP_005256350.1:p.Met510Ile
XM_011522942.1:c.1530G>C	XP_011521244.1:p.Met510Ile
XM_011522943.1:c.1530G>C	XP_011521245.1:p.Met510Ile
XR_933239.1:n.1971G>C
XR_933240.1:n.1968G>C
XR_933241.1:n.1725G>C
NR_147928.1:n.2008G>C
NR_147929.1:n.1762G>C
XM_005256293.2:c.1530G>C	XP_005256350.1:p.Met510Ile
XM_017023018.1:c.1530G>C	XP_016878507.1:p.Met510Ile
XM_017023019.1:c.1530G>C	XP_016878508.1:p.Met510Ile
XM_017023020.2:c.-3575G>C	XP_016878509.1:n.-3575G>C
XM_017023022.1:c.663G>C	XP_016878511.1:p.Met221Ile
XM_024450186.1:c.735G>C	XP_024305954.1:p.Met245Ile
XM_024450187.1:c.735G>C	XP_024305955.1:p.Met245Ile
XR_001751864.2:n.1777G>C
XR_001751865.1:n.1724G>C
XR_933240.3:n.1967G>C
NM_001127214.4:c.1530G>C	NP_001120686.1:p.Met510Ile
NM_001243279.3:c.1530G>C MANE Select	NP_001230208.1:p.Met510Ile
NM_001284316.2:c.735G>C	NP_001271245.1:p.Met245Ile
NM_174917.5:c.1530G>C	NP_777577.2:p.Met510Ile
NR_104293.2:n.1921G>C
NR_147928.2:n.1965G>C
NR_147929.2:n.1719G>C