Canonical Allele Identifier: CA400568783

Gene: ACE

Linked Data

• dbSNP Id: rs1282502522
• gnomAD v2: 17-61574581-C-T
• gnomAD v4: 17-63497220-C-T
• MyVariant Identifiers: chr17:g.61574581C>T (hg19) ; chr17:g.63497220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497220C>T , CM000679.2:g.63497220C>T	GRCh38
NC_000017.10:g.61574581C>T , CM000679.1:g.61574581C>T	GRCh37
NC_000017.9:g.58928313C>T	NCBI36
NG_011648.1:g.25148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3775C>T MANE Select	ENSP00000290866.4:p.Gln1259Ter
ENST00000290863.10:c.2053C>T	ENSP00000290863.6:p.Gln685Ter
ENST00000290866.9:c.3775C>T	ENSP00000290866.4:p.Gln1259Ter
ENST00000413513.7:c.1930C>T	ENSP00000392247.3:p.Gln644Ter
ENST00000428043.5:c.*197C>T	ENSP00000397593.2:n.*197C>T
ENST00000577647.2:c.1969+235C>T	ENSP00000464149.1:n.1969+235C>T
ENST00000578839.5:c.*1530C>T	ENSP00000462110.2:n.*1530C>T
ENST00000579314.5:c.*1504C>T	ENSP00000462599.1:n.*1504C>T
NM_000789.3:c.3775C>T	NP_000780.1:p.Gln1259Ter
NM_001178057.1:c.1930C>T	NP_001171528.1:p.Gln644Ter
NM_152830.2:c.2053C>T	NP_690043.1:p.Gln685Ter
XM_005257110.1:c.3226C>T	XP_005257167.1:p.Gln1076Ter
XM_006721737.2:c.2113C>T	XP_006721800.2:p.Gln705Ter
XM_006721737.3:c.2113C>T	XP_006721800.2:p.Gln705Ter
NM_000789.4:c.3775C>T MANE Select	NP_000780.1:p.Gln1259Ter
NM_001178057.2:c.1930C>T	NP_001171528.1:p.Gln644Ter
NM_152830.3:c.2053C>T	NP_690043.1:p.Gln685Ter
NM_001382700.1:c.3208C>T	NP_001369629.1:p.Gln1070Ter
NM_001382701.1:c.2923C>T	NP_001369630.1:p.Gln975Ter
NM_001382702.1:c.1390C>T	NP_001369631.1:p.Gln464Ter
NR_168483.1:n.2153C>T