Canonical Allele Identifier: CA400556314

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564050G>A (hg19) ; chr17:g.63486689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486689G>A , CM000679.2:g.63486689G>A	GRCh38
NC_000017.10:g.61564050G>A , CM000679.1:g.61564050G>A	GRCh37
NC_000017.9:g.58917782G>A	NCBI36
NG_011648.1:g.14617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2191G>A MANE Select	ENSP00000290866.4:p.Ala731Thr
ENST00000290863.10:c.469G>A	ENSP00000290863.6:p.Ala157Thr
ENST00000290866.9:c.2191G>A	ENSP00000290866.4:p.Ala731Thr
ENST00000413513.7:c.469G>A	ENSP00000392247.3:p.Ala157Thr
ENST00000428043.5:c.2191G>A	ENSP00000397593.2:p.Ala731Thr
ENST00000577647.2:c.469G>A	ENSP00000464149.1:p.Ala157Thr
ENST00000578839.5:c.*261G>A	ENSP00000462110.2:n.*261G>A
ENST00000579204.1:c.372G>A	ENSP00000464629.1:n.372G>A
ENST00000579314.5:c.469G>A	ENSP00000462599.1:p.Ala157Thr
ENST00000579726.5:c.753G>A
ENST00000582005.5:c.*111G>A	ENSP00000462002.1:n.*111G>A
NM_000789.3:c.2191G>A	NP_000780.1:p.Ala731Thr
NM_001178057.1:c.469G>A	NP_001171528.1:p.Ala157Thr
NM_152830.2:c.469G>A	NP_690043.1:p.Ala157Thr
XM_005257110.1:c.1642G>A	XP_005257167.1:p.Ala548Thr
XM_006721737.2:c.529G>A	XP_006721800.2:p.Ala177Thr
XM_006721737.3:c.529G>A	XP_006721800.2:p.Ala177Thr
NM_000789.4:c.2191G>A MANE Select	NP_000780.1:p.Ala731Thr
NM_001178057.2:c.469G>A	NP_001171528.1:p.Ala157Thr
NM_152830.3:c.469G>A	NP_690043.1:p.Ala157Thr
NM_001382700.1:c.1624G>A	NP_001369629.1:p.Ala542Thr
NM_001382701.1:c.1339G>A	NP_001369630.1:p.Ala447Thr
NM_001382702.1:c.121G>A	NP_001369631.1:p.Ala41Thr
NR_168483.1:n.491G>A