Canonical Allele Identifier: CA399239771

Gene: ACACA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37097148T>A , CM000679.2:g.37097148T>A	GRCh38
NC_000017.10:g.35454083T>A , CM000679.1:g.35454083T>A	GRCh37
NC_000017.9:g.32528196T>A	NCBI36
NG_023295.2:g.314664A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616317.5:c.6739A>T MANE Select	ENSP00000483300.1:p.Thr2247Ser
ENST00000612895.4:c.6454A>T	ENSP00000482269.1:p.Thr2152Ser
ENST00000613776.1:n.865A>T
ENST00000614428.4:c.6628A>T	ENSP00000478547.1:p.Thr2210Ser
ENST00000614482.4:c.1324A>T
ENST00000616317.4:c.6739A>T	ENSP00000483300.1:p.Thr2247Ser
ENST00000617649.4:c.6394A>T	ENSP00000482368.1:p.Thr2132Ser
ENST00000619546.4:c.2584A>T	ENSP00000483969.1:p.Thr862Ser
NM_198834.2:c.6739A>T	NP_942131.1:p.Thr2247Ser
NM_198836.2:c.6628A>T	NP_942133.1:p.Thr2210Ser
NM_198837.1:c.6454A>T	NP_942134.1:p.Thr2152Ser
NM_198838.1:c.6394A>T	NP_942135.1:p.Thr2132Ser
NM_198839.2:c.6628A>T	NP_942136.1:p.Thr2210Ser
XM_005257267.3:c.6394A>T	XP_005257324.1:p.Thr2132Ser
XM_006721853.1:c.6715A>T	XP_006721916.1:p.Thr2239Ser
XM_011524701.1:c.6649A>T	XP_011523003.1:p.Thr2217Ser
XM_011524702.1:c.6628A>T	XP_011523004.1:p.Thr2210Ser
XM_011524703.1:c.6628A>T	XP_011523005.1:p.Thr2210Ser
XM_011524704.1:c.6394A>T	XP_011523006.1:p.Thr2132Ser
XM_005257267.5:c.6394A>T	XP_005257324.1:p.Thr2132Ser
XM_011524704.2:c.6394A>T	XP_011523006.1:p.Thr2132Ser
XM_017024553.1:c.6763A>T	XP_016880042.1:p.Thr2255Ser
XM_017024554.1:c.6739A>T	XP_016880043.1:p.Thr2247Ser
XM_017024555.1:c.6628A>T	XP_016880044.1:p.Thr2210Ser
NM_198834.3:c.6739A>T MANE Select	NP_942131.1:p.Thr2247Ser
NM_198836.3:c.6628A>T	NP_942133.1:p.Thr2210Ser
NM_198837.2:c.6454A>T	NP_942134.1:p.Thr2152Ser
NM_198838.2:c.6394A>T	NP_942135.1:p.Thr2132Ser
NM_198839.3:c.6628A>T	NP_942136.1:p.Thr2210Ser