Canonical Allele Identifier: CA216215

Gene: ACLY

Linked Data

• ClinVar Variation Id: 64470
• ClinVar RCV Id: RCV000054657
• dbSNP Id: rs387907385
• MyVariant Identifiers: chr17:g.40028331G>A (hg19) ; chr17:g.41872078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41872078G>A , CM000679.2:g.41872078G>A	GRCh38
NC_000017.10:g.40028331G>A , CM000679.1:g.40028331G>A	GRCh37
NC_000017.9:g.37281857G>A	NCBI36
NG_047031.1:g.63465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352035.7:c.2747C>T MANE Select	ENSP00000253792.2:p.Ala916Val
ENST00000352035.6:c.2747C>T	ENSP00000253792.2:p.Ala916Val
ENST00000353196.5:c.2717C>T	ENSP00000345398.1:p.Ala906Val
ENST00000393896.6:c.2717C>T	ENSP00000377474.1:p.Ala906Val
ENST00000537919.5:c.1934C>T	ENSP00000445349.1:p.Ala645Val
ENST00000590151.5:c.2747C>T	ENSP00000466259.1:p.Ala916Val
NM_001096.2:c.2747C>T	NP_001087.2:p.Ala916Val
NM_001303274.1:c.2909C>T	NP_001290203.1:p.Ala970Val
NM_001303275.1:c.2879C>T	NP_001290204.1:p.Ala960Val
NM_198830.1:c.2717C>T	NP_942127.1:p.Ala906Val
XM_005257395.1:c.2747C>T	XP_005257452.1:p.Ala916Val
XM_017024688.1:c.2717C>T	XP_016880177.1:p.Ala906Val
NM_001096.3:c.2747C>T MANE Select	NP_001087.2:p.Ala916Val
NM_198830.2:c.2717C>T	NP_942127.1:p.Ala906Val