Canonical Allele Identifier: CA292890176

Gene: ACE

Linked Data

• dbSNP Id: rs866250489
• gnomAD v2: 17-61574327-C-T
• gnomAD v4: 17-63496966-C-T
• MyVariant Identifiers: chr17:g.61574327C>T (hg19) ; chr17:g.63496966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496966C>T , CM000679.2:g.63496966C>T	GRCh38
NC_000017.10:g.61574327C>T , CM000679.1:g.61574327C>T	GRCh37
NC_000017.9:g.58928059C>T	NCBI36
NG_011648.1:g.24894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3672C>T MANE Select	ENSP00000290866.4:p.Tyr1224=
ENST00000290863.10:c.1950C>T	ENSP00000290863.6:p.Tyr650=
ENST00000290866.9:c.3672C>T	ENSP00000290866.4:p.Tyr1224=
ENST00000413513.7:c.1827C>T	ENSP00000392247.3:p.Tyr609=
ENST00000428043.5:c.3672C>T	ENSP00000397593.2:p.Tyr1224=
ENST00000577418.5:n.682C>T
ENST00000577647.2:c.1950C>T	ENSP00000464149.1:p.Tyr650=
ENST00000578839.5:c.*1427C>T	ENSP00000462110.2:n.*1427C>T
ENST00000579314.5:c.*1401C>T	ENSP00000462599.1:n.*1401C>T
ENST00000579409.1:c.359C>T
ENST00000582244.1:n.546C>T
NM_000789.3:c.3672C>T	NP_000780.1:p.Tyr1224=
NM_001178057.1:c.1827C>T	NP_001171528.1:p.Tyr609=
NM_152830.2:c.1950C>T	NP_690043.1:p.Tyr650=
XM_005257110.1:c.3123C>T	XP_005257167.1:p.Tyr1041=
XM_006721737.2:c.2010C>T	XP_006721800.2:p.Tyr670=
XM_006721737.3:c.2010C>T	XP_006721800.2:p.Tyr670=
NM_000789.4:c.3672C>T MANE Select	NP_000780.1:p.Tyr1224=
NM_001178057.2:c.1827C>T	NP_001171528.1:p.Tyr609=
NM_152830.3:c.1950C>T	NP_690043.1:p.Tyr650=
NM_001382700.1:c.3105C>T	NP_001369629.1:p.Tyr1035=
NM_001382701.1:c.2820C>T	NP_001369630.1:p.Tyr940=
NM_001382702.1:c.1287C>T	NP_001369631.1:p.Tyr429=
NR_168483.1:n.2050C>T