Canonical Allele Identifier: CA400558045

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566131A>C (hg19) ; chr17:g.63488770A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488770A>C , CM000679.2:g.63488770A>C	GRCh38
NC_000017.10:g.61566131A>C , CM000679.1:g.61566131A>C	GRCh37
NC_000017.9:g.58919863A>C	NCBI36
NG_011648.1:g.16698A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2428A>C MANE Select	ENSP00000290866.4:p.Asn810His
ENST00000290863.10:c.706A>C	ENSP00000290863.6:p.Asn236His
ENST00000290866.9:c.2428A>C	ENSP00000290866.4:p.Asn810His
ENST00000413513.7:c.706A>C	ENSP00000392247.3:p.Asn236His
ENST00000428043.5:c.2428A>C	ENSP00000397593.2:p.Asn810His
ENST00000577647.2:c.706A>C	ENSP00000464149.1:p.Asn236His
ENST00000578839.5:c.*498A>C	ENSP00000462110.2:n.*498A>C
ENST00000579204.1:c.687A>C	ENSP00000464629.1:n.687A>C
ENST00000579314.5:c.*157A>C	ENSP00000462599.1:n.*157A>C
ENST00000582005.5:c.*348A>C	ENSP00000462002.1:n.*348A>C
ENST00000582761.1:c.196A>C	ENSP00000462909.1:p.Asn66His
ENST00000584865.5:n.374A>C
NM_000789.3:c.2428A>C	NP_000780.1:p.Asn810His
NM_001178057.1:c.706A>C	NP_001171528.1:p.Asn236His
NM_152830.2:c.706A>C	NP_690043.1:p.Asn236His
XM_005257110.1:c.1879A>C	XP_005257167.1:p.Asn627His
XM_006721737.2:c.766A>C	XP_006721800.2:p.Asn256His
XM_006721737.3:c.766A>C	XP_006721800.2:p.Asn256His
NM_000789.4:c.2428A>C MANE Select	NP_000780.1:p.Asn810His
NM_001178057.2:c.706A>C	NP_001171528.1:p.Asn236His
NM_152830.3:c.706A>C	NP_690043.1:p.Asn236His
NM_001382700.1:c.1861A>C	NP_001369629.1:p.Asn621His
NM_001382701.1:c.1576A>C	NP_001369630.1:p.Asn526His
NM_001382702.1:c.358A>C	NP_001369631.1:p.Asn120His
NR_168483.1:n.806A>C