Canonical Allele Identifier: CA397148104

Gene: ACSF3

Linked Data

• gnomAD v3: 16-89145321-T-G
• gnomAD v4: 16-89145321-T-G
• MyVariant Identifiers: chr16:g.89211729T>G (hg19) ; chr16:g.89145321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145321T>G , CM000678.2:g.89145321T>G	GRCh38
NC_000016.9:g.89211729T>G , CM000678.1:g.89211729T>G	GRCh37
NC_000016.8:g.87739230T>G	NCBI36
NG_031961.1:g.56513T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1421T>G	ENSP00000320646.4:p.Val474Gly
ENST00000614302.5:c.1421T>G MANE Select	ENSP00000479130.1:p.Val474Gly
ENST00000649953.1:c.1631T>G	ENSP00000497456.1:p.Val544Gly
ENST00000317447.8:c.1421T>G	ENSP00000320646.4:p.Val474Gly
ENST00000378345.8:c.626T>G	ENSP00000367596.4:p.Val209Gly
ENST00000406948.7:c.1421T>G	ENSP00000384627.3:p.Val474Gly
ENST00000537116.5:n.547T>G
ENST00000537155.1:n.161T>G
ENST00000542688.5:c.*165T>G	ENSP00000446281.1:n.*165T>G
ENST00000544543.5:c.626T>G	ENSP00000442781.1:p.Val209Gly
ENST00000562204.1:n.394T>G
ENST00000614302.4:c.1421T>G	ENSP00000479130.1:p.Val474Gly
NM_001127214.3:c.1421T>G	NP_001120686.1:p.Val474Gly
NM_001243279.2:c.1421T>G	NP_001230208.1:p.Val474Gly
NM_001284316.1:c.626T>G	NP_001271245.1:p.Val209Gly
NM_174917.4:c.1421T>G	NP_777577.2:p.Val474Gly
NR_045667.2:n.547T>G
NR_104293.1:n.1855T>G
XM_005256293.1:c.1421T>G	XP_005256350.1:p.Val474Gly
XM_011522942.1:c.1421T>G	XP_011521244.1:p.Val474Gly
XM_011522943.1:c.1421T>G	XP_011521245.1:p.Val474Gly
XR_933239.1:n.1862T>G
XR_933240.1:n.1859T>G
XR_933241.1:n.1616T>G
NR_147928.1:n.1899T>G
NR_147929.1:n.1653T>G
XM_005256293.2:c.1421T>G	XP_005256350.1:p.Val474Gly
XM_017023018.1:c.1421T>G	XP_016878507.1:p.Val474Gly
XM_017023019.1:c.1421T>G	XP_016878508.1:p.Val474Gly
XM_017023020.2:c.-3684T>G	XP_016878509.1:n.-3684T>G
XM_017023022.1:c.554T>G	XP_016878511.1:p.Val185Gly
XM_024450186.1:c.626T>G	XP_024305954.1:p.Val209Gly
XM_024450187.1:c.626T>G	XP_024305955.1:p.Val209Gly
XR_001751864.2:n.1668T>G
XR_001751865.1:n.1615T>G
XR_933240.3:n.1858T>G
NM_001127214.4:c.1421T>G	NP_001120686.1:p.Val474Gly
NM_001243279.3:c.1421T>G MANE Select	NP_001230208.1:p.Val474Gly
NM_001284316.2:c.626T>G	NP_001271245.1:p.Val209Gly
NM_174917.5:c.1421T>G	NP_777577.2:p.Val474Gly
NR_104293.2:n.1812T>G
NR_147928.2:n.1856T>G
NR_147929.2:n.1610T>G