Canonical Allele Identifier: CA216209
Community Standard Title: NM_001096.3(ACLY):c.1395G>A (p.Ala465=)
Gene: ACLY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41897783C>T , CM000679.2:g.41897783C>T GRCh38
NC_000017.10:g.40054036C>T , CM000679.1:g.40054036C>T GRCh37
NC_000017.9:g.37307562C>T NCBI36
NG_047031.1:g.37760G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001096.3:c.1395G>A MANE Select NP_001087.2:p.Ala465=
ENST00000352035.7:c.1395G>A MANE Select ENSP00000253792.2:p.Ala465=
NM_001096.2:c.1395G>A NP_001087.2:p.Ala465=
NM_001303274.1:c.1557G>A NP_001290203.1:p.Ala519=
NM_001303275.1:c.1557G>A NP_001290204.1:p.Ala519=
NM_198830.1:c.1395G>A NP_942127.1:p.Ala465=
NM_198830.2:c.1395G>A NP_942127.1:p.Ala465=
ENST00000352035.6:c.1395G>A ENSP00000253792.2:p.Ala465=
ENST00000353196.5:c.1395G>A ENSP00000345398.1:p.Ala465=
ENST00000393896.6:c.1395G>A ENSP00000377474.1:p.Ala465=
ENST00000537919.5:c.612G>A ENSP00000445349.1:p.Ala204=
ENST00000590151.5:c.1395G>A ENSP00000466259.1:p.Ala465=
XM_005257395.1:c.1395G>A XP_005257452.1:p.Ala465=
XM_017024688.1:c.1395G>A XP_016880177.1:p.Ala465=