Canonical Allele Identifier: CA290411834

Gene: ACACA

Linked Data

• dbSNP Id: rs1020232019
• gnomAD v3: 17-37111143-C-A
• gnomAD v4: 17-37111143-C-A
• MyVariant Identifiers: chr17:g.35468078C>A (hg19) ; chr17:g.37111143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37111143C>A , CM000679.2:g.37111143C>A	GRCh38
NC_000017.10:g.35468078C>A , CM000679.1:g.35468078C>A	GRCh37
NC_000017.9:g.32542191C>A	NCBI36
NG_023295.2:g.300669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616317.5:c.6565+388G>T MANE Select	ENSP00000483300.1:n.6565+388G>T
ENST00000612895.4:c.6280+388G>T	ENSP00000482269.1:n.6280+388G>T
ENST00000613776.1:n.691+388G>T
ENST00000614428.4:c.6454+388G>T	ENSP00000478547.1:n.6454+388G>T
ENST00000614482.4:c.1150+388G>T
ENST00000616317.4:c.6565+388G>T	ENSP00000483300.1:n.6565+388G>T
ENST00000617649.4:c.6220+388G>T	ENSP00000482368.1:n.6220+388G>T
ENST00000619546.4:c.2410+388G>T	ENSP00000483969.1:n.2410+388G>T
NM_198834.2:c.6565+388G>T	NP_942131.1:n.6565+388G>T
NM_198836.2:c.6454+388G>T	NP_942133.1:n.6454+388G>T
NM_198837.1:c.6280+388G>T	NP_942134.1:n.6280+388G>T
NM_198838.1:c.6220+388G>T	NP_942135.1:n.6220+388G>T
NM_198839.2:c.6454+388G>T	NP_942136.1:n.6454+388G>T
XM_005257267.3:c.6220+388G>T	XP_005257324.1:n.6220+388G>T
XM_006721853.1:c.6541+388G>T	XP_006721916.1:n.6541+388G>T
XM_011524701.1:c.6475+388G>T	XP_011523003.1:n.6475+388G>T
XM_011524702.1:c.6454+388G>T	XP_011523004.1:n.6454+388G>T
XM_011524703.1:c.6454+388G>T	XP_011523005.1:n.6454+388G>T
XM_011524704.1:c.6220+388G>T	XP_011523006.1:n.6220+388G>T
XM_005257267.5:c.6220+388G>T	XP_005257324.1:n.6220+388G>T
XM_011524704.2:c.6220+388G>T	XP_011523006.1:n.6220+388G>T
XM_017024553.1:c.6589+388G>T	XP_016880042.1:n.6589+388G>T
XM_017024554.1:c.6565+388G>T	XP_016880043.1:n.6565+388G>T
XM_017024555.1:c.6454+388G>T	XP_016880044.1:n.6454+388G>T
NM_198834.3:c.6565+388G>T MANE Select	NP_942131.1:n.6565+388G>T
NM_198836.3:c.6454+388G>T	NP_942133.1:n.6454+388G>T
NM_198837.2:c.6280+388G>T	NP_942134.1:n.6280+388G>T
NM_198838.2:c.6220+388G>T	NP_942135.1:n.6220+388G>T
NM_198839.3:c.6454+388G>T	NP_942136.1:n.6454+388G>T