Canonical Allele Identifier: CA400567987

Gene: ACE

Linked Data

• ClinVar Variation Id: 3044462
• ClinVar RCV Id: RCV003939703
• dbSNP Id: rs1599158521
• gnomAD v3: 17-63496994-A-C
• gnomAD v4: 17-63496994-A-C
• MyVariant Identifiers: chr17:g.61574355A>C (hg19) ; chr17:g.63496994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496994A>C , CM000679.2:g.63496994A>C	GRCh38
NC_000017.10:g.61574355A>C , CM000679.1:g.61574355A>C	GRCh37
NC_000017.9:g.58928087A>C	NCBI36
NG_011648.1:g.24922A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3691+9A>C MANE Select	ENSP00000290866.4:n.3691+9A>C
ENST00000290863.10:c.1969+9A>C	ENSP00000290863.6:n.1969+9A>C
ENST00000290866.9:c.3691+9A>C	ENSP00000290866.4:n.3691+9A>C
ENST00000413513.7:c.1846+9A>C	ENSP00000392247.3:n.1846+9A>C
ENST00000428043.5:c.3700A>C	ENSP00000397593.2:p.Thr1234Pro
ENST00000577418.5:n.701+9A>C
ENST00000577647.2:c.1969+9A>C	ENSP00000464149.1:n.1969+9A>C
ENST00000578839.5:c.*1446+9A>C	ENSP00000462110.2:n.*1446+9A>C
ENST00000579314.5:c.*1420+9A>C	ENSP00000462599.1:n.*1420+9A>C
ENST00000579409.1:c.387A>C
NM_000789.3:c.3691+9A>C	NP_000780.1:n.3691+9A>C
NM_001178057.1:c.1846+9A>C	NP_001171528.1:n.1846+9A>C
NM_152830.2:c.1969+9A>C	NP_690043.1:n.1969+9A>C
XM_005257110.1:c.3142+9A>C	XP_005257167.1:n.3142+9A>C
XM_006721737.2:c.2029+9A>C	XP_006721800.2:n.2029+9A>C
XM_006721737.3:c.2029+9A>C	XP_006721800.2:n.2029+9A>C
NM_000789.4:c.3691+9A>C MANE Select	NP_000780.1:n.3691+9A>C
NM_001178057.2:c.1846+9A>C	NP_001171528.1:n.1846+9A>C
NM_152830.3:c.1969+9A>C	NP_690043.1:n.1969+9A>C
NM_001382700.1:c.3124+9A>C	NP_001369629.1:n.3124+9A>C
NM_001382701.1:c.2839+9A>C	NP_001369630.1:n.2839+9A>C
NM_001382702.1:c.1306+9A>C	NP_001369631.1:n.1306+9A>C
NR_168483.1:n.2069+9A>C