Canonical Allele Identifier: CA501185429

Gene: ACE

Linked Data

• dbSNP Id: rs1258404523
• gnomAD v3: 17-63487036-G-A
• gnomAD v4: 17-63487036-G-A
• MyVariant Identifiers: chr17:g.61564397G>A (hg19) ; chr17:g.63487036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487036G>A , CM000679.2:g.63487036G>A	GRCh38
NC_000017.10:g.61564397G>A , CM000679.1:g.61564397G>A	GRCh37
NC_000017.9:g.58918129G>A	NCBI36
NG_011648.1:g.14964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2268G>A MANE Select	ENSP00000290866.4:p.Val756=
ENST00000290863.10:c.546G>A	ENSP00000290863.6:p.Val182=
ENST00000290866.9:c.2268G>A	ENSP00000290866.4:p.Val756=
ENST00000413513.7:c.546G>A	ENSP00000392247.3:p.Val182=
ENST00000428043.5:c.2268G>A	ENSP00000397593.2:p.Val756=
ENST00000577647.2:c.546G>A	ENSP00000464149.1:p.Val182=
ENST00000578839.5:c.*338G>A	ENSP00000462110.2:n.*338G>A
ENST00000579204.1:c.449G>A	ENSP00000464629.1:n.449G>A
ENST00000579314.5:c.546G>A	ENSP00000462599.1:p.Val182=
ENST00000579726.5:c.830G>A
ENST00000582005.5:c.*188G>A	ENSP00000462002.1:n.*188G>A
ENST00000582761.1:c.36G>A	ENSP00000462909.1:p.Val12=
ENST00000584865.5:n.214G>A
NM_000789.3:c.2268G>A	NP_000780.1:p.Val756=
NM_001178057.1:c.546G>A	NP_001171528.1:p.Val182=
NM_152830.2:c.546G>A	NP_690043.1:p.Val182=
XM_005257110.1:c.1719G>A	XP_005257167.1:p.Val573=
XM_006721737.2:c.606G>A	XP_006721800.2:p.Val202=
XM_006721737.3:c.606G>A	XP_006721800.2:p.Val202=
NM_000789.4:c.2268G>A MANE Select	NP_000780.1:p.Val756=
NM_001178057.2:c.546G>A	NP_001171528.1:p.Val182=
NM_152830.3:c.546G>A	NP_690043.1:p.Val182=
NM_001382700.1:c.1701G>A	NP_001369629.1:p.Val567=
NM_001382701.1:c.1416G>A	NP_001369630.1:p.Val472=
NM_001382702.1:c.198G>A	NP_001369631.1:p.Val66=
NR_168483.1:n.568G>A