Canonical Allele Identifier: CA400568765

Gene: ACE

Linked Data

• dbSNP Id: rs1347084405
• gnomAD v2: 17-61574578-G-A
• gnomAD v4: 17-63497217-G-A
• MyVariant Identifiers: chr17:g.61574578G>A (hg19) ; chr17:g.63497217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497217G>A , CM000679.2:g.63497217G>A	GRCh38
NC_000017.10:g.61574578G>A , CM000679.1:g.61574578G>A	GRCh37
NC_000017.9:g.58928310G>A	NCBI36
NG_011648.1:g.25145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3772G>A MANE Select	ENSP00000290866.4:p.Gly1258Ser
ENST00000290863.10:c.2050G>A	ENSP00000290863.6:p.Gly684Ser
ENST00000290866.9:c.3772G>A	ENSP00000290866.4:p.Gly1258Ser
ENST00000413513.7:c.1927G>A	ENSP00000392247.3:p.Gly643Ser
ENST00000428043.5:c.*194G>A	ENSP00000397593.2:n.*194G>A
ENST00000577647.2:c.1969+232G>A	ENSP00000464149.1:n.1969+232G>A
ENST00000578839.5:c.*1527G>A	ENSP00000462110.2:n.*1527G>A
ENST00000579314.5:c.*1501G>A	ENSP00000462599.1:n.*1501G>A
NM_000789.3:c.3772G>A	NP_000780.1:p.Gly1258Ser
NM_001178057.1:c.1927G>A	NP_001171528.1:p.Gly643Ser
NM_152830.2:c.2050G>A	NP_690043.1:p.Gly684Ser
XM_005257110.1:c.3223G>A	XP_005257167.1:p.Gly1075Ser
XM_006721737.2:c.2110G>A	XP_006721800.2:p.Gly704Ser
XM_006721737.3:c.2110G>A	XP_006721800.2:p.Gly704Ser
NM_000789.4:c.3772G>A MANE Select	NP_000780.1:p.Gly1258Ser
NM_001178057.2:c.1927G>A	NP_001171528.1:p.Gly643Ser
NM_152830.3:c.2050G>A	NP_690043.1:p.Gly684Ser
NM_001382700.1:c.3205G>A	NP_001369629.1:p.Gly1069Ser
NM_001382701.1:c.2920G>A	NP_001369630.1:p.Gly974Ser
NM_001382702.1:c.1387G>A	NP_001369631.1:p.Gly463Ser
NR_168483.1:n.2150G>A