Canonical Allele Identifier: CA8700132

Gene: ACE

Linked Data

• dbSNP Id: rs373925900
• ExAC: 17:61566333 T / A
• gnomAD v2: 17-61566333-T-A
• gnomAD v3: 17-63488972-T-A
• gnomAD v4: 17-63488972-T-A
• MyVariant Identifiers: chr17:g.61566333T>A (hg19) ; chr17:g.63488972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488972T>A , CM000679.2:g.63488972T>A	GRCh38
NC_000017.10:g.61566333T>A , CM000679.1:g.61566333T>A	GRCh37
NC_000017.9:g.58920065T>A	NCBI36
NG_011648.1:g.16900T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2481T>A MANE Select	ENSP00000290866.4:p.Ser827=
ENST00000290863.10:c.759T>A	ENSP00000290863.6:p.Ser253=
ENST00000290866.9:c.2481T>A	ENSP00000290866.4:p.Ser827=
ENST00000413513.7:c.759T>A	ENSP00000392247.3:p.Ser253=
ENST00000428043.5:c.2481T>A	ENSP00000397593.2:p.Ser827=
ENST00000577647.2:c.759T>A	ENSP00000464149.1:p.Ser253=
ENST00000578839.5:c.*519+181T>A	ENSP00000462110.2:n.*519+181T>A
ENST00000579204.1:c.740T>A	ENSP00000464629.1:n.740T>A
ENST00000579314.5:c.*210T>A	ENSP00000462599.1:n.*210T>A
ENST00000582005.5:c.*401T>A	ENSP00000462002.1:n.*401T>A
ENST00000582761.1:c.249T>A	ENSP00000462909.1:p.Ser83=
ENST00000584865.5:n.427T>A
NM_000789.3:c.2481T>A	NP_000780.1:p.Ser827=
NM_001178057.1:c.759T>A	NP_001171528.1:p.Ser253=
NM_152830.2:c.759T>A	NP_690043.1:p.Ser253=
XM_005257110.1:c.1932T>A	XP_005257167.1:p.Ser644=
XM_006721737.2:c.819T>A	XP_006721800.2:p.Ser273=
XM_006721737.3:c.819T>A	XP_006721800.2:p.Ser273=
NM_000789.4:c.2481T>A MANE Select	NP_000780.1:p.Ser827=
NM_001178057.2:c.759T>A	NP_001171528.1:p.Ser253=
NM_152830.3:c.759T>A	NP_690043.1:p.Ser253=
NM_001382700.1:c.1914T>A	NP_001369629.1:p.Ser638=
NM_001382701.1:c.1629T>A	NP_001369630.1:p.Ser543=
NM_001382702.1:c.379+181T>A	NP_001369631.1:n.379+181T>A
NR_168483.1:n.859T>A