Canonical Allele Identifier: CA216207

Gene: ACLY

Linked Data

• ClinVar Variation Id: 64466
• ClinVar RCV Id: RCV000054653
• dbSNP Id: rs387907382
• gnomAD v2: 17-40058010-T-G
• gnomAD v4: 17-41901757-T-G
• MyVariant Identifiers: chr17:g.40058010T>G (hg19) ; chr17:g.41901757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41901757T>G , CM000679.2:g.41901757T>G	GRCh38
NC_000017.10:g.40058010T>G , CM000679.1:g.40058010T>G	GRCh37
NC_000017.9:g.37311536T>G	NCBI36
NG_047031.1:g.33786A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352035.7:c.1122A>C MANE Select	ENSP00000253792.2:p.Thr374=
ENST00000352035.6:c.1122A>C	ENSP00000253792.2:p.Thr374=
ENST00000353196.5:c.1122A>C	ENSP00000345398.1:p.Thr374=
ENST00000393896.6:c.1122A>C	ENSP00000377474.1:p.Thr374=
ENST00000537919.5:c.339A>C	ENSP00000445349.1:p.Thr113=
ENST00000590151.5:c.1122A>C	ENSP00000466259.1:p.Thr374=
ENST00000590770.5:c.144A>C	ENSP00000464717.1:p.Thr48=
NM_001096.2:c.1122A>C	NP_001087.2:p.Thr374=
NM_001303274.1:c.1284A>C	NP_001290203.1:p.Thr428=
NM_001303275.1:c.1284A>C	NP_001290204.1:p.Thr428=
NM_198830.1:c.1122A>C	NP_942127.1:p.Thr374=
XM_005257395.1:c.1122A>C	XP_005257452.1:p.Thr374=
XM_017024688.1:c.1122A>C	XP_016880177.1:p.Thr374=
NM_001096.3:c.1122A>C MANE Select	NP_001087.2:p.Thr374=
NM_198830.2:c.1122A>C	NP_942127.1:p.Thr374=