Canonical Allele Identifier: CA8700150

Gene: ACE

Linked Data

• ClinVar Variation Id: 2992406
• ClinVar RCV Id: RCV003855533
• dbSNP Id: rs771821963
• ExAC: 17:61566411 T / C
• gnomAD v2: 17-61566411-T-C
• gnomAD v4: 17-63489050-T-C
• MyVariant Identifiers: chr17:g.61566411T>C (hg19) ; chr17:g.63489050T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489050T>C , CM000679.2:g.63489050T>C	GRCh38
NC_000017.10:g.61566411T>C , CM000679.1:g.61566411T>C	GRCh37
NC_000017.9:g.58920143T>C	NCBI36
NG_011648.1:g.16978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2559T>C MANE Select	ENSP00000290866.4:p.His853=
ENST00000290863.10:c.837T>C	ENSP00000290863.6:p.His279=
ENST00000290866.9:c.2559T>C	ENSP00000290866.4:p.His853=
ENST00000413513.7:c.837T>C	ENSP00000392247.3:p.His279=
ENST00000428043.5:c.2559T>C	ENSP00000397593.2:p.His853=
ENST00000577647.2:c.837T>C	ENSP00000464149.1:p.His279=
ENST00000578839.5:c.*519+259T>C	ENSP00000462110.2:n.*519+259T>C
ENST00000579314.5:c.*288T>C	ENSP00000462599.1:n.*288T>C
ENST00000582005.5:c.*479T>C	ENSP00000462002.1:n.*479T>C
ENST00000582761.1:c.327T>C	ENSP00000462909.1:p.His109=
ENST00000584865.5:n.505T>C
NM_000789.3:c.2559T>C	NP_000780.1:p.His853=
NM_001178057.1:c.837T>C	NP_001171528.1:p.His279=
NM_152830.2:c.837T>C	NP_690043.1:p.His279=
XM_005257110.1:c.2010T>C	XP_005257167.1:p.His670=
XM_006721737.2:c.897T>C	XP_006721800.2:p.His299=
XM_006721737.3:c.897T>C	XP_006721800.2:p.His299=
NM_000789.4:c.2559T>C MANE Select	NP_000780.1:p.His853=
NM_001178057.2:c.837T>C	NP_001171528.1:p.His279=
NM_152830.3:c.837T>C	NP_690043.1:p.His279=
NM_001382700.1:c.1992T>C	NP_001369629.1:p.His664=
NM_001382701.1:c.1707T>C	NP_001369630.1:p.His569=
NM_001382702.1:c.379+259T>C	NP_001369631.1:n.379+259T>C
NR_168483.1:n.937T>C