Canonical Allele Identifier: CA216223
Community Standard Title: NM_001096.3(ACLY):c.789C>T (p.Ser263=)
Gene: ACLY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41906605G>A , CM000679.2:g.41906605G>A GRCh38
NC_000017.10:g.40062858G>A , CM000679.1:g.40062858G>A GRCh37
NC_000017.9:g.37316384G>A NCBI36
NG_047031.1:g.28938C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001096.3:c.789C>T MANE Select NP_001087.2:p.Ser263=
ENST00000352035.7:c.789C>T MANE Select ENSP00000253792.2:p.Ser263=
NM_001096.2:c.789C>T NP_001087.2:p.Ser263=
NM_001303274.1:c.951C>T NP_001290203.1:p.Ser317=
NM_001303275.1:c.951C>T NP_001290204.1:p.Ser317=
NM_198830.1:c.789C>T NP_942127.1:p.Ser263=
NM_198830.2:c.789C>T NP_942127.1:p.Ser263=
ENST00000352035.6:c.789C>T ENSP00000253792.2:p.Ser263=
ENST00000353196.5:c.789C>T ENSP00000345398.1:p.Ser263=
ENST00000393896.6:c.789C>T ENSP00000377474.1:p.Ser263=
ENST00000537919.5:c.283-4792C>T ENSP00000445349.1:n.283-4792C>T
ENST00000590151.5:c.789C>T ENSP00000466259.1:p.Ser263=
ENST00000590735.1:n.579C>T
ENST00000590770.5:c.-112-947C>T ENSP00000464717.1:n.-112-947C>T
XM_005257395.1:c.789C>T XP_005257452.1:p.Ser263=
XM_017024688.1:c.789C>T XP_016880177.1:p.Ser263=