Canonical Allele Identifier: CA8699960

Gene: ACE

Linked Data

• dbSNP Id: rs199785479
• ExAC: 17:61564059 G / T
• gnomAD v2: 17-61564059-G-T
• gnomAD v3: 17-63486698-G-T
• gnomAD v4: 17-63486698-G-T
• MyVariant Identifiers: chr17:g.61564059G>T (hg19) ; chr17:g.63486698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486698G>T , CM000679.2:g.63486698G>T	GRCh38
NC_000017.10:g.61564059G>T , CM000679.1:g.61564059G>T	GRCh37
NC_000017.9:g.58917791G>T	NCBI36
NG_011648.1:g.14626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2200G>T MANE Select	ENSP00000290866.4:p.Ala734Ser
ENST00000290863.10:c.478G>T	ENSP00000290863.6:p.Ala160Ser
ENST00000290866.9:c.2200G>T	ENSP00000290866.4:p.Ala734Ser
ENST00000413513.7:c.478G>T	ENSP00000392247.3:p.Ala160Ser
ENST00000428043.5:c.2200G>T	ENSP00000397593.2:p.Ala734Ser
ENST00000577647.2:c.478G>T	ENSP00000464149.1:p.Ala160Ser
ENST00000578839.5:c.*270G>T	ENSP00000462110.2:n.*270G>T
ENST00000579204.1:c.381G>T	ENSP00000464629.1:n.381G>T
ENST00000579314.5:c.478G>T	ENSP00000462599.1:p.Ala160Ser
ENST00000579726.5:c.762G>T
ENST00000582005.5:c.*120G>T	ENSP00000462002.1:n.*120G>T
NM_000789.3:c.2200G>T	NP_000780.1:p.Ala734Ser
NM_001178057.1:c.478G>T	NP_001171528.1:p.Ala160Ser
NM_152830.2:c.478G>T	NP_690043.1:p.Ala160Ser
XM_005257110.1:c.1651G>T	XP_005257167.1:p.Ala551Ser
XM_006721737.2:c.538G>T	XP_006721800.2:p.Ala180Ser
XM_006721737.3:c.538G>T	XP_006721800.2:p.Ala180Ser
NM_000789.4:c.2200G>T MANE Select	NP_000780.1:p.Ala734Ser
NM_001178057.2:c.478G>T	NP_001171528.1:p.Ala160Ser
NM_152830.3:c.478G>T	NP_690043.1:p.Ala160Ser
NM_001382700.1:c.1633G>T	NP_001369629.1:p.Ala545Ser
NM_001382701.1:c.1348G>T	NP_001369630.1:p.Ala450Ser
NM_001382702.1:c.130G>T	NP_001369631.1:p.Ala44Ser
NR_168483.1:n.500G>T