Canonical Allele Identifier: CA400557941

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566082G>C (hg19) ; chr17:g.63488721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488721G>C , CM000679.2:g.63488721G>C	GRCh38
NC_000017.10:g.61566082G>C , CM000679.1:g.61566082G>C	GRCh37
NC_000017.9:g.58919814G>C	NCBI36
NG_011648.1:g.16649G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2379G>C MANE Select	ENSP00000290866.4:p.Lys793Asn
ENST00000290863.10:c.657G>C	ENSP00000290863.6:p.Lys219Asn
ENST00000290866.9:c.2379G>C	ENSP00000290866.4:p.Lys793Asn
ENST00000413513.7:c.657G>C	ENSP00000392247.3:p.Lys219Asn
ENST00000428043.5:c.2379G>C	ENSP00000397593.2:p.Lys793Asn
ENST00000577647.2:c.657G>C	ENSP00000464149.1:p.Lys219Asn
ENST00000578839.5:c.*449G>C	ENSP00000462110.2:n.*449G>C
ENST00000579204.1:c.638G>C	ENSP00000464629.1:n.638G>C
ENST00000579314.5:c.*108G>C	ENSP00000462599.1:n.*108G>C
ENST00000582005.5:c.*299G>C	ENSP00000462002.1:n.*299G>C
ENST00000582761.1:c.147G>C	ENSP00000462909.1:p.Lys49Asn
ENST00000584865.5:n.325G>C
NM_000789.3:c.2379G>C	NP_000780.1:p.Lys793Asn
NM_001178057.1:c.657G>C	NP_001171528.1:p.Lys219Asn
NM_152830.2:c.657G>C	NP_690043.1:p.Lys219Asn
XM_005257110.1:c.1830G>C	XP_005257167.1:p.Lys610Asn
XM_006721737.2:c.717G>C	XP_006721800.2:p.Lys239Asn
XM_006721737.3:c.717G>C	XP_006721800.2:p.Lys239Asn
NM_000789.4:c.2379G>C MANE Select	NP_000780.1:p.Lys793Asn
NM_001178057.2:c.657G>C	NP_001171528.1:p.Lys219Asn
NM_152830.3:c.657G>C	NP_690043.1:p.Lys219Asn
NM_001382700.1:c.1812G>C	NP_001369629.1:p.Lys604Asn
NM_001382701.1:c.1527G>C	NP_001369630.1:p.Lys509Asn
NM_001382702.1:c.309G>C	NP_001369631.1:p.Lys103Asn
NR_168483.1:n.757G>C