Canonical Allele Identifier: CA8700133

Gene: ACE

Linked Data

• ClinVar Variation Id: 324396
• ClinVar RCV Id: RCV000313206 ; RCV001850735 ; RCV002480154
• dbSNP Id: rs13306091
• ExAC: 17:61566335 T / C
• gnomAD v2: 17-61566335-T-C
• gnomAD v3: 17-63488974-T-C
• gnomAD v4: 17-63488974-T-C
• MyVariant Identifiers: chr17:g.61566335T>C (hg19) ; chr17:g.63488974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488974T>C , CM000679.2:g.63488974T>C	GRCh38
NC_000017.10:g.61566335T>C , CM000679.1:g.61566335T>C	GRCh37
NC_000017.9:g.58920067T>C	NCBI36
NG_011648.1:g.16902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2483T>C MANE Select	ENSP00000290866.4:p.Met828Thr
ENST00000290863.10:c.761T>C	ENSP00000290863.6:p.Met254Thr
ENST00000290866.9:c.2483T>C	ENSP00000290866.4:p.Met828Thr
ENST00000413513.7:c.761T>C	ENSP00000392247.3:p.Met254Thr
ENST00000428043.5:c.2483T>C	ENSP00000397593.2:p.Met828Thr
ENST00000577647.2:c.761T>C	ENSP00000464149.1:p.Met254Thr
ENST00000578839.5:c.*519+183T>C	ENSP00000462110.2:n.*519+183T>C
ENST00000579204.1:c.742T>C	ENSP00000464629.1:n.742T>C
ENST00000579314.5:c.*212T>C	ENSP00000462599.1:n.*212T>C
ENST00000582005.5:c.*403T>C	ENSP00000462002.1:n.*403T>C
ENST00000582761.1:c.251T>C	ENSP00000462909.1:p.Met84Thr
ENST00000584865.5:n.429T>C
NM_000789.3:c.2483T>C	NP_000780.1:p.Met828Thr
NM_001178057.1:c.761T>C	NP_001171528.1:p.Met254Thr
NM_152830.2:c.761T>C	NP_690043.1:p.Met254Thr
XM_005257110.1:c.1934T>C	XP_005257167.1:p.Met645Thr
XM_006721737.2:c.821T>C	XP_006721800.2:p.Met274Thr
XM_006721737.3:c.821T>C	XP_006721800.2:p.Met274Thr
NM_000789.4:c.2483T>C MANE Select	NP_000780.1:p.Met828Thr
NM_001178057.2:c.761T>C	NP_001171528.1:p.Met254Thr
NM_152830.3:c.761T>C	NP_690043.1:p.Met254Thr
NM_001382700.1:c.1916T>C	NP_001369629.1:p.Met639Thr
NM_001382701.1:c.1631T>C	NP_001369630.1:p.Met544Thr
NM_001382702.1:c.379+183T>C	NP_001369631.1:n.379+183T>C
NR_168483.1:n.861T>C