Canonical Allele Identifier: CA397150520

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220541G>T (hg19) ; chr16:g.89154133G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154133G>T , CM000678.2:g.89154133G>T	GRCh38
NC_000016.9:g.89220541G>T , CM000678.1:g.89220541G>T	GRCh37
NC_000016.8:g.87748042G>T	NCBI36
NG_031961.1:g.65325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1657G>T	ENSP00000320646.4:p.Val553Leu
ENST00000614302.5:c.1657G>T MANE Select	ENSP00000479130.1:p.Val553Leu
ENST00000649953.1:c.1867G>T	ENSP00000497456.1:p.Val623Leu
ENST00000317447.8:c.1657G>T	ENSP00000320646.4:p.Val553Leu
ENST00000378345.8:c.862G>T	ENSP00000367596.4:p.Val288Leu
ENST00000393145.5:n.6567G>T
ENST00000406948.7:c.1657G>T	ENSP00000384627.3:p.Val553Leu
ENST00000537116.5:n.783G>T
ENST00000537155.1:n.397G>T
ENST00000542688.5:c.*401G>T	ENSP00000446281.1:n.*401G>T
ENST00000614302.4:c.1657G>T	ENSP00000479130.1:p.Val553Leu
NM_001127214.3:c.1657G>T	NP_001120686.1:p.Val553Leu
NM_001243279.2:c.1657G>T	NP_001230208.1:p.Val553Leu
NM_001284316.1:c.862G>T	NP_001271245.1:p.Val288Leu
NM_174917.4:c.1657G>T	NP_777577.2:p.Val553Leu
NR_045667.2:n.783G>T
NR_104293.1:n.2091G>T
XR_933239.1:n.2098G>T
XR_933240.1:n.2095G>T
XR_933241.1:n.1852G>T
NR_147928.1:n.2135G>T
NR_147929.1:n.1889G>T
XM_017023020.2:c.-3448G>T	XP_016878509.1:n.-3448G>T
XM_024450187.1:c.862G>T	XP_024305955.1:p.Val288Leu
XR_001751864.2:n.1904G>T
XR_933240.3:n.2094G>T
NM_001127214.4:c.1657G>T	NP_001120686.1:p.Val553Leu
NM_001243279.3:c.1657G>T MANE Select	NP_001230208.1:p.Val553Leu
NM_001284316.2:c.862G>T	NP_001271245.1:p.Val288Leu
NM_174917.5:c.1657G>T	NP_777577.2:p.Val553Leu
NR_104293.2:n.2048G>T
NR_147928.2:n.2092G>T
NR_147929.2:n.1846G>T