Canonical Allele Identifier: CA400548785

Gene: ACE

Linked Data

• gnomAD v4: 17-63482476-T-A
• MyVariant Identifiers: chr17:g.61559837T>A (hg19) ; chr17:g.63482476T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482476T>A , CM000679.2:g.63482476T>A	GRCh38
NC_000017.10:g.61559837T>A , CM000679.1:g.61559837T>A	GRCh37
NC_000017.9:g.58913569T>A	NCBI36
NG_011648.1:g.10404T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1129T>A MANE Select	ENSP00000290866.4:p.Cys377Ser
ENST00000290866.9:c.1129T>A	ENSP00000290866.4:p.Cys377Ser
ENST00000428043.5:c.1129T>A	ENSP00000397593.2:p.Cys377Ser
ENST00000582678.5:c.*528T>A	ENSP00000462995.1:n.*528T>A
ENST00000584529.5:n.1163T>A
NM_000789.3:c.1129T>A	NP_000780.1:p.Cys377Ser
XM_005257110.1:c.580T>A	XP_005257167.1:p.Cys194Ser
NM_000789.4:c.1129T>A MANE Select	NP_000780.1:p.Cys377Ser
NM_001382700.1:c.562T>A	NP_001369629.1:p.Cys188Ser
NM_001382701.1:c.277T>A	NP_001369630.1:p.Cys93Ser