Canonical Allele Identifier: CA400557929

Gene: ACE

Linked Data

• dbSNP Id: rs1291650441
• gnomAD v2: 17-61566077-G-C
• gnomAD v4: 17-63488716-G-C
• MyVariant Identifiers: chr17:g.61566077G>C (hg19) ; chr17:g.63488716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488716G>C , CM000679.2:g.63488716G>C	GRCh38
NC_000017.10:g.61566077G>C , CM000679.1:g.61566077G>C	GRCh37
NC_000017.9:g.58919809G>C	NCBI36
NG_011648.1:g.16644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2374G>C MANE Select	ENSP00000290866.4:p.Asp792His
ENST00000290863.10:c.652G>C	ENSP00000290863.6:p.Asp218His
ENST00000290866.9:c.2374G>C	ENSP00000290866.4:p.Asp792His
ENST00000413513.7:c.652G>C	ENSP00000392247.3:p.Asp218His
ENST00000428043.5:c.2374G>C	ENSP00000397593.2:p.Asp792His
ENST00000577647.2:c.652G>C	ENSP00000464149.1:p.Asp218His
ENST00000578839.5:c.*444G>C	ENSP00000462110.2:n.*444G>C
ENST00000579204.1:c.633G>C	ENSP00000464629.1:n.633G>C
ENST00000579314.5:c.*103G>C	ENSP00000462599.1:n.*103G>C
ENST00000582005.5:c.*294G>C	ENSP00000462002.1:n.*294G>C
ENST00000582761.1:c.142G>C	ENSP00000462909.1:p.Asp48His
ENST00000584865.5:n.320G>C
NM_000789.3:c.2374G>C	NP_000780.1:p.Asp792His
NM_001178057.1:c.652G>C	NP_001171528.1:p.Asp218His
NM_152830.2:c.652G>C	NP_690043.1:p.Asp218His
XM_005257110.1:c.1825G>C	XP_005257167.1:p.Asp609His
XM_006721737.2:c.712G>C	XP_006721800.2:p.Asp238His
XM_006721737.3:c.712G>C	XP_006721800.2:p.Asp238His
NM_000789.4:c.2374G>C MANE Select	NP_000780.1:p.Asp792His
NM_001178057.2:c.652G>C	NP_001171528.1:p.Asp218His
NM_152830.3:c.652G>C	NP_690043.1:p.Asp218His
NM_001382700.1:c.1807G>C	NP_001369629.1:p.Asp603His
NM_001382701.1:c.1522G>C	NP_001369630.1:p.Asp508His
NM_001382702.1:c.304G>C	NP_001369631.1:p.Asp102His
NR_168483.1:n.752G>C