Canonical Allele Identifier: CA292883616

Gene: ACE

Linked Data

• dbSNP Id: rs948647202
• gnomAD v4: 17-63488854-G-A
• MyVariant Identifiers: chr17:g.61566215G>A (hg19) ; chr17:g.63488854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488854G>A , CM000679.2:g.63488854G>A	GRCh38
NC_000017.10:g.61566215G>A , CM000679.1:g.61566215G>A	GRCh37
NC_000017.9:g.58919947G>A	NCBI36
NG_011648.1:g.16782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2449+63G>A MANE Select	ENSP00000290866.4:n.2449+63G>A
ENST00000290863.10:c.727+63G>A	ENSP00000290863.6:n.727+63G>A
ENST00000290866.9:c.2449+63G>A	ENSP00000290866.4:n.2449+63G>A
ENST00000413513.7:c.727+63G>A	ENSP00000392247.3:n.727+63G>A
ENST00000428043.5:c.2449+63G>A	ENSP00000397593.2:n.2449+63G>A
ENST00000577647.2:c.727+63G>A	ENSP00000464149.1:n.727+63G>A
ENST00000578839.5:c.*519+63G>A	ENSP00000462110.2:n.*519+63G>A
ENST00000579204.1:c.708+63G>A	ENSP00000464629.1:n.708+63G>A
ENST00000579314.5:c.*178+63G>A	ENSP00000462599.1:n.*178+63G>A
ENST00000582005.5:c.*369+63G>A	ENSP00000462002.1:n.*369+63G>A
ENST00000582761.1:c.217+63G>A	ENSP00000462909.1:n.217+63G>A
ENST00000584865.5:n.395+63G>A
NM_000789.3:c.2449+63G>A	NP_000780.1:n.2449+63G>A
NM_001178057.1:c.727+63G>A	NP_001171528.1:n.727+63G>A
NM_152830.2:c.727+63G>A	NP_690043.1:n.727+63G>A
XM_005257110.1:c.1900+63G>A	XP_005257167.1:n.1900+63G>A
XM_006721737.2:c.787+63G>A	XP_006721800.2:n.787+63G>A
XM_006721737.3:c.787+63G>A	XP_006721800.2:n.787+63G>A
NM_000789.4:c.2449+63G>A MANE Select	NP_000780.1:n.2449+63G>A
NM_001178057.2:c.727+63G>A	NP_001171528.1:n.727+63G>A
NM_152830.3:c.727+63G>A	NP_690043.1:n.727+63G>A
NM_001382700.1:c.1882+63G>A	NP_001369629.1:n.1882+63G>A
NM_001382701.1:c.1597+63G>A	NP_001369630.1:n.1597+63G>A
NM_001382702.1:c.379+63G>A	NP_001369631.1:n.379+63G>A
NR_168483.1:n.827+63G>A