Canonical Allele Identifier: CA400556182

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564027A>C (hg19) ; chr17:g.63486666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486666A>C , CM000679.2:g.63486666A>C	GRCh38
NC_000017.10:g.61564027A>C , CM000679.1:g.61564027A>C	GRCh37
NC_000017.9:g.58917759A>C	NCBI36
NG_011648.1:g.14594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2168A>C MANE Select	ENSP00000290866.4:p.Lys723Thr
ENST00000290863.10:c.446A>C	ENSP00000290863.6:p.Lys149Thr
ENST00000290866.9:c.2168A>C	ENSP00000290866.4:p.Lys723Thr
ENST00000413513.7:c.446A>C	ENSP00000392247.3:p.Lys149Thr
ENST00000428043.5:c.2168A>C	ENSP00000397593.2:p.Lys723Thr
ENST00000577647.2:c.446A>C	ENSP00000464149.1:p.Lys149Thr
ENST00000578839.5:c.*238A>C	ENSP00000462110.2:n.*238A>C
ENST00000579204.1:c.349A>C	ENSP00000464629.1:n.349A>C
ENST00000579314.5:c.446A>C	ENSP00000462599.1:p.Lys149Thr
ENST00000579726.5:c.730A>C
ENST00000582005.5:c.*88A>C	ENSP00000462002.1:n.*88A>C
NM_000789.3:c.2168A>C	NP_000780.1:p.Lys723Thr
NM_001178057.1:c.446A>C	NP_001171528.1:p.Lys149Thr
NM_152830.2:c.446A>C	NP_690043.1:p.Lys149Thr
XM_005257110.1:c.1619A>C	XP_005257167.1:p.Lys540Thr
XM_006721737.2:c.506A>C	XP_006721800.2:p.Lys169Thr
XM_006721737.3:c.506A>C	XP_006721800.2:p.Lys169Thr
NM_000789.4:c.2168A>C MANE Select	NP_000780.1:p.Lys723Thr
NM_001178057.2:c.446A>C	NP_001171528.1:p.Lys149Thr
NM_152830.3:c.446A>C	NP_690043.1:p.Lys149Thr
NM_001382700.1:c.1601A>C	NP_001369629.1:p.Lys534Thr
NM_001382701.1:c.1316A>C	NP_001369630.1:p.Lys439Thr
NM_001382702.1:c.98A>C	NP_001369631.1:p.Lys33Thr
NR_168483.1:n.468A>C