Canonical Allele Identifier: CA400538889

Gene: ACE

Linked Data

• dbSNP Id: rs2049631676
• gnomAD v4: 17-63477263-G-A
• MyVariant Identifiers: chr17:g.61554624G>A (hg19) ; chr17:g.63477263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477263G>A , CM000679.2:g.63477263G>A	GRCh38
NC_000017.10:g.61554624G>A , CM000679.1:g.61554624G>A	GRCh37
NC_000017.9:g.58908356G>A	NCBI36
NG_011648.1:g.5191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.169G>A MANE Select	ENSP00000290866.4:p.Ala57Thr
ENST00000290866.9:c.169G>A	ENSP00000290866.4:p.Ala57Thr
ENST00000428043.5:c.169G>A	ENSP00000397593.2:p.Ala57Thr
ENST00000579462.1:n.194G>A
ENST00000582678.5:c.169G>A	ENSP00000462995.1:p.Ala57Thr
ENST00000583336.5:n.203G>A
ENST00000584529.5:n.203G>A
NM_000789.3:c.169G>A	NP_000780.1:p.Ala57Thr
XM_005257110.1:c.-287G>A	XP_005257167.1:n.-287G>A
NM_000789.4:c.169G>A MANE Select	NP_000780.1:p.Ala57Thr
NM_001382700.1:c.-67G>A	NP_001369629.1:n.-67G>A
NM_001382701.1:c.-446G>A	NP_001369630.1:n.-446G>A