Canonical Allele Identifier: CA400567897

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574341A>C (hg19) ; chr17:g.63496980A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496980A>C , CM000679.2:g.63496980A>C	GRCh38
NC_000017.10:g.61574341A>C , CM000679.1:g.61574341A>C	GRCh37
NC_000017.9:g.58928073A>C	NCBI36
NG_011648.1:g.24908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3686A>C MANE Select	ENSP00000290866.4:p.Asn1229Thr
ENST00000290863.10:c.1964A>C	ENSP00000290863.6:p.Asn655Thr
ENST00000290866.9:c.3686A>C	ENSP00000290866.4:p.Asn1229Thr
ENST00000413513.7:c.1841A>C	ENSP00000392247.3:p.Asn614Thr
ENST00000428043.5:c.3686A>C	ENSP00000397593.2:p.Asn1229Thr
ENST00000577418.5:n.696A>C
ENST00000577647.2:c.1964A>C	ENSP00000464149.1:p.Asn655Thr
ENST00000578839.5:c.*1441A>C	ENSP00000462110.2:n.*1441A>C
ENST00000579314.5:c.*1415A>C	ENSP00000462599.1:n.*1415A>C
ENST00000579409.1:c.373A>C
ENST00000582244.1:n.560A>C
NM_000789.3:c.3686A>C	NP_000780.1:p.Asn1229Thr
NM_001178057.1:c.1841A>C	NP_001171528.1:p.Asn614Thr
NM_152830.2:c.1964A>C	NP_690043.1:p.Asn655Thr
XM_005257110.1:c.3137A>C	XP_005257167.1:p.Asn1046Thr
XM_006721737.2:c.2024A>C	XP_006721800.2:p.Asn675Thr
XM_006721737.3:c.2024A>C	XP_006721800.2:p.Asn675Thr
NM_000789.4:c.3686A>C MANE Select	NP_000780.1:p.Asn1229Thr
NM_001178057.2:c.1841A>C	NP_001171528.1:p.Asn614Thr
NM_152830.3:c.1964A>C	NP_690043.1:p.Asn655Thr
NM_001382700.1:c.3119A>C	NP_001369629.1:p.Asn1040Thr
NM_001382701.1:c.2834A>C	NP_001369630.1:p.Asn945Thr
NM_001382702.1:c.1301A>C	NP_001369631.1:p.Asn434Thr
NR_168483.1:n.2064A>C