Canonical Allele Identifier: CA400558163

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566323C>A (hg19) ; chr17:g.63488962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488962C>A , CM000679.2:g.63488962C>A	GRCh38
NC_000017.10:g.61566323C>A , CM000679.1:g.61566323C>A	GRCh37
NC_000017.9:g.58920055C>A	NCBI36
NG_011648.1:g.16890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2471C>A MANE Select	ENSP00000290866.4:p.Ser824Ter
ENST00000290863.10:c.749C>A	ENSP00000290863.6:p.Ser250Ter
ENST00000290866.9:c.2471C>A	ENSP00000290866.4:p.Ser824Ter
ENST00000413513.7:c.749C>A	ENSP00000392247.3:p.Ser250Ter
ENST00000428043.5:c.2471C>A	ENSP00000397593.2:p.Ser824Ter
ENST00000577647.2:c.749C>A	ENSP00000464149.1:p.Ser250Ter
ENST00000578839.5:c.*519+171C>A	ENSP00000462110.2:n.*519+171C>A
ENST00000579204.1:c.730C>A	ENSP00000464629.1:n.730C>A
ENST00000579314.5:c.*200C>A	ENSP00000462599.1:n.*200C>A
ENST00000582005.5:c.*391C>A	ENSP00000462002.1:n.*391C>A
ENST00000582761.1:c.239C>A	ENSP00000462909.1:p.Ser80Ter
ENST00000584865.5:n.417C>A
NM_000789.3:c.2471C>A	NP_000780.1:p.Ser824Ter
NM_001178057.1:c.749C>A	NP_001171528.1:p.Ser250Ter
NM_152830.2:c.749C>A	NP_690043.1:p.Ser250Ter
XM_005257110.1:c.1922C>A	XP_005257167.1:p.Ser641Ter
XM_006721737.2:c.809C>A	XP_006721800.2:p.Ser270Ter
XM_006721737.3:c.809C>A	XP_006721800.2:p.Ser270Ter
NM_000789.4:c.2471C>A MANE Select	NP_000780.1:p.Ser824Ter
NM_001178057.2:c.749C>A	NP_001171528.1:p.Ser250Ter
NM_152830.3:c.749C>A	NP_690043.1:p.Ser250Ter
NM_001382700.1:c.1904C>A	NP_001369629.1:p.Ser635Ter
NM_001382701.1:c.1619C>A	NP_001369630.1:p.Ser540Ter
NM_001382702.1:c.379+171C>A	NP_001369631.1:n.379+171C>A
NR_168483.1:n.849C>A