Canonical Allele Identifier: CA8700542

Gene: ACE

Linked Data

• dbSNP Id: rs748236790
• ExAC: 17:61574183 T / C
• gnomAD v2: 17-61574183-T-C
• gnomAD v3: 17-63496822-T-C
• gnomAD v4: 17-63496822-T-C
• MyVariant Identifiers: chr17:g.61574183T>C (hg19) ; chr17:g.63496822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496822T>C , CM000679.2:g.63496822T>C	GRCh38
NC_000017.10:g.61574183T>C , CM000679.1:g.61574183T>C	GRCh37
NC_000017.9:g.58927915T>C	NCBI36
NG_011648.1:g.24750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3528T>C MANE Select	ENSP00000290866.4:p.Ser1176=
ENST00000290863.10:c.1806T>C	ENSP00000290863.6:p.Ser602=
ENST00000290866.9:c.3528T>C	ENSP00000290866.4:p.Ser1176=
ENST00000413513.7:c.1683T>C	ENSP00000392247.3:p.Ser561=
ENST00000428043.5:c.3528T>C	ENSP00000397593.2:p.Ser1176=
ENST00000577418.5:n.538T>C
ENST00000577647.2:c.1806T>C	ENSP00000464149.1:p.Ser602=
ENST00000578839.5:c.*1283T>C	ENSP00000462110.2:n.*1283T>C
ENST00000579314.5:c.*1257T>C	ENSP00000462599.1:n.*1257T>C
ENST00000579409.1:c.215T>C
ENST00000582244.1:n.402T>C
NM_000789.3:c.3528T>C	NP_000780.1:p.Ser1176=
NM_001178057.1:c.1683T>C	NP_001171528.1:p.Ser561=
NM_152830.2:c.1806T>C	NP_690043.1:p.Ser602=
XM_005257110.1:c.2979T>C	XP_005257167.1:p.Ser993=
XM_006721737.2:c.1866T>C	XP_006721800.2:p.Ser622=
XM_006721737.3:c.1866T>C	XP_006721800.2:p.Ser622=
NM_000789.4:c.3528T>C MANE Select	NP_000780.1:p.Ser1176=
NM_001178057.2:c.1683T>C	NP_001171528.1:p.Ser561=
NM_152830.3:c.1806T>C	NP_690043.1:p.Ser602=
NM_001382700.1:c.2961T>C	NP_001369629.1:p.Ser987=
NM_001382701.1:c.2676T>C	NP_001369630.1:p.Ser892=
NM_001382702.1:c.1143T>C	NP_001369631.1:p.Ser381=
NR_168483.1:n.1906T>C