Canonical Allele Identifier: CA2639243248

Gene: ACE

Linked Data

• gnomAD v4: 17-63497096-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497096T>C , CM000679.2:g.63497096T>C	GRCh38
NC_000017.10:g.61574457T>C , CM000679.1:g.61574457T>C	GRCh37
NC_000017.9:g.58928189T>C	NCBI36
NG_011648.1:g.25024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-41T>C MANE Select	ENSP00000290866.4:n.3692-41T>C
ENST00000290863.10:c.1970-41T>C	ENSP00000290863.6:n.1970-41T>C
ENST00000290866.9:c.3692-41T>C	ENSP00000290866.4:n.3692-41T>C
ENST00000413513.7:c.1847-41T>C	ENSP00000392247.3:n.1847-41T>C
ENST00000428043.5:c.*73T>C	ENSP00000397593.2:n.*73T>C
ENST00000577418.5:n.702-41T>C
ENST00000577647.2:c.1969+111T>C	ENSP00000464149.1:n.1969+111T>C
ENST00000578839.5:c.*1447-41T>C	ENSP00000462110.2:n.*1447-41T>C
ENST00000579314.5:c.*1421-41T>C	ENSP00000462599.1:n.*1421-41T>C
ENST00000579409.1:c.489T>C
NM_000789.3:c.3692-41T>C	NP_000780.1:n.3692-41T>C
NM_001178057.1:c.1847-41T>C	NP_001171528.1:n.1847-41T>C
NM_152830.2:c.1970-41T>C	NP_690043.1:n.1970-41T>C
XM_005257110.1:c.3143-41T>C	XP_005257167.1:n.3143-41T>C
XM_006721737.2:c.2030-41T>C	XP_006721800.2:n.2030-41T>C
XM_006721737.3:c.2030-41T>C	XP_006721800.2:n.2030-41T>C
NM_000789.4:c.3692-41T>C MANE Select	NP_000780.1:n.3692-41T>C
NM_001178057.2:c.1847-41T>C	NP_001171528.1:n.1847-41T>C
NM_152830.3:c.1970-41T>C	NP_690043.1:n.1970-41T>C
NM_001382700.1:c.3125-41T>C	NP_001369629.1:n.3125-41T>C
NM_001382701.1:c.2840-41T>C	NP_001369630.1:n.2840-41T>C
NM_001382702.1:c.1307-41T>C	NP_001369631.1:n.1307-41T>C
NR_168483.1:n.2070-41T>C