Canonical Allele Identifier: CA400558513

Gene: ACE

Linked Data

• dbSNP Id: rs1599149517
• gnomAD v4: 17-63489042-A-C
• MyVariant Identifiers: chr17:g.61566403A>C (hg19) ; chr17:g.63489042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489042A>C , CM000679.2:g.63489042A>C	GRCh38
NC_000017.10:g.61566403A>C , CM000679.1:g.61566403A>C	GRCh37
NC_000017.9:g.58920135A>C	NCBI36
NG_011648.1:g.16970A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2551A>C MANE Select	ENSP00000290866.4:p.Asn851His
ENST00000290863.10:c.829A>C	ENSP00000290863.6:p.Asn277His
ENST00000290866.9:c.2551A>C	ENSP00000290866.4:p.Asn851His
ENST00000413513.7:c.829A>C	ENSP00000392247.3:p.Asn277His
ENST00000428043.5:c.2551A>C	ENSP00000397593.2:p.Asn851His
ENST00000577647.2:c.829A>C	ENSP00000464149.1:p.Asn277His
ENST00000578839.5:c.*519+251A>C	ENSP00000462110.2:n.*519+251A>C
ENST00000579314.5:c.*280A>C	ENSP00000462599.1:n.*280A>C
ENST00000582005.5:c.*471A>C	ENSP00000462002.1:n.*471A>C
ENST00000582761.1:c.319A>C	ENSP00000462909.1:p.Asn107His
ENST00000584865.5:n.497A>C
NM_000789.3:c.2551A>C	NP_000780.1:p.Asn851His
NM_001178057.1:c.829A>C	NP_001171528.1:p.Asn277His
NM_152830.2:c.829A>C	NP_690043.1:p.Asn277His
XM_005257110.1:c.2002A>C	XP_005257167.1:p.Asn668His
XM_006721737.2:c.889A>C	XP_006721800.2:p.Asn297His
XM_006721737.3:c.889A>C	XP_006721800.2:p.Asn297His
NM_000789.4:c.2551A>C MANE Select	NP_000780.1:p.Asn851His
NM_001178057.2:c.829A>C	NP_001171528.1:p.Asn277His
NM_152830.3:c.829A>C	NP_690043.1:p.Asn277His
NM_001382700.1:c.1984A>C	NP_001369629.1:p.Asn662His
NM_001382701.1:c.1699A>C	NP_001369630.1:p.Asn567His
NM_001382702.1:c.379+251A>C	NP_001369631.1:n.379+251A>C
NR_168483.1:n.929A>C