Canonical Allele Identifier: CA400558442

Gene: ACE

Linked Data

• dbSNP Id: rs990108624
• gnomAD v2: 17-61566390-G-C
• gnomAD v3: 17-63489029-G-C
• gnomAD v4: 17-63489029-G-C
• MyVariant Identifiers: chr17:g.61566390G>C (hg19) ; chr17:g.63489029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489029G>C , CM000679.2:g.63489029G>C	GRCh38
NC_000017.10:g.61566390G>C , CM000679.1:g.61566390G>C	GRCh37
NC_000017.9:g.58920122G>C	NCBI36
NG_011648.1:g.16957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2538G>C MANE Select	ENSP00000290866.4:p.Gln846His
ENST00000290863.10:c.816G>C	ENSP00000290863.6:p.Gln272His
ENST00000290866.9:c.2538G>C	ENSP00000290866.4:p.Gln846His
ENST00000413513.7:c.816G>C	ENSP00000392247.3:p.Gln272His
ENST00000428043.5:c.2538G>C	ENSP00000397593.2:p.Gln846His
ENST00000577647.2:c.816G>C	ENSP00000464149.1:p.Gln272His
ENST00000578839.5:c.*519+238G>C	ENSP00000462110.2:n.*519+238G>C
ENST00000579204.1:c.797G>C	ENSP00000464629.1:n.797G>C
ENST00000579314.5:c.*267G>C	ENSP00000462599.1:n.*267G>C
ENST00000582005.5:c.*458G>C	ENSP00000462002.1:n.*458G>C
ENST00000582761.1:c.306G>C	ENSP00000462909.1:p.Gln102His
ENST00000584865.5:n.484G>C
NM_000789.3:c.2538G>C	NP_000780.1:p.Gln846His
NM_001178057.1:c.816G>C	NP_001171528.1:p.Gln272His
NM_152830.2:c.816G>C	NP_690043.1:p.Gln272His
XM_005257110.1:c.1989G>C	XP_005257167.1:p.Gln663His
XM_006721737.2:c.876G>C	XP_006721800.2:p.Gln292His
XM_006721737.3:c.876G>C	XP_006721800.2:p.Gln292His
NM_000789.4:c.2538G>C MANE Select	NP_000780.1:p.Gln846His
NM_001178057.2:c.816G>C	NP_001171528.1:p.Gln272His
NM_152830.3:c.816G>C	NP_690043.1:p.Gln272His
NM_001382700.1:c.1971G>C	NP_001369629.1:p.Gln657His
NM_001382701.1:c.1686G>C	NP_001369630.1:p.Gln562His
NM_001382702.1:c.379+238G>C	NP_001369631.1:n.379+238G>C
NR_168483.1:n.916G>C