Canonical Allele Identifier: CA501342318

Gene: ACE

Linked Data

• dbSNP Id: rs770384980
• gnomAD v2: 17-61574562-G-T
• gnomAD v4: 17-63497201-G-T
• MyVariant Identifiers: chr17:g.61574562G>T (hg19) ; chr17:g.63497201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497201G>T , CM000679.2:g.63497201G>T	GRCh38
NC_000017.10:g.61574562G>T , CM000679.1:g.61574562G>T	GRCh37
NC_000017.9:g.58928294G>T	NCBI36
NG_011648.1:g.25129G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3756G>T MANE Select	ENSP00000290866.4:p.Ala1252=
ENST00000290863.10:c.2034G>T	ENSP00000290863.6:p.Ala678=
ENST00000290866.9:c.3756G>T	ENSP00000290866.4:p.Ala1252=
ENST00000413513.7:c.1911G>T	ENSP00000392247.3:p.Ala637=
ENST00000428043.5:c.*178G>T	ENSP00000397593.2:n.*178G>T
ENST00000577647.2:c.1969+216G>T	ENSP00000464149.1:n.1969+216G>T
ENST00000578839.5:c.*1511G>T	ENSP00000462110.2:n.*1511G>T
ENST00000579314.5:c.*1485G>T	ENSP00000462599.1:n.*1485G>T
NM_000789.3:c.3756G>T	NP_000780.1:p.Ala1252=
NM_001178057.1:c.1911G>T	NP_001171528.1:p.Ala637=
NM_152830.2:c.2034G>T	NP_690043.1:p.Ala678=
XM_005257110.1:c.3207G>T	XP_005257167.1:p.Ala1069=
XM_006721737.2:c.2094G>T	XP_006721800.2:p.Ala698=
XM_006721737.3:c.2094G>T	XP_006721800.2:p.Ala698=
NM_000789.4:c.3756G>T MANE Select	NP_000780.1:p.Ala1252=
NM_001178057.2:c.1911G>T	NP_001171528.1:p.Ala637=
NM_152830.3:c.2034G>T	NP_690043.1:p.Ala678=
NM_001382700.1:c.3189G>T	NP_001369629.1:p.Ala1063=
NM_001382701.1:c.2904G>T	NP_001369630.1:p.Ala968=
NM_001382702.1:c.1371G>T	NP_001369631.1:p.Ala457=
NR_168483.1:n.2134G>T