Canonical Allele Identifier: CA8700584

Gene: ACE

Linked Data

• dbSNP Id: rs776554544
• ExAC: 17:61574325 T / C
• gnomAD v2: 17-61574325-T-C
• gnomAD v4: 17-63496964-T-C
• MyVariant Identifiers: chr17:g.61574325T>C (hg19) ; chr17:g.63496964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496964T>C , CM000679.2:g.63496964T>C	GRCh38
NC_000017.10:g.61574325T>C , CM000679.1:g.61574325T>C	GRCh37
NC_000017.9:g.58928057T>C	NCBI36
NG_011648.1:g.24892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3670T>C MANE Select	ENSP00000290866.4:p.Tyr1224His
ENST00000290863.10:c.1948T>C	ENSP00000290863.6:p.Tyr650His
ENST00000290866.9:c.3670T>C	ENSP00000290866.4:p.Tyr1224His
ENST00000413513.7:c.1825T>C	ENSP00000392247.3:p.Tyr609His
ENST00000428043.5:c.3670T>C	ENSP00000397593.2:p.Tyr1224His
ENST00000577418.5:n.680T>C
ENST00000577647.2:c.1948T>C	ENSP00000464149.1:p.Tyr650His
ENST00000578839.5:c.*1425T>C	ENSP00000462110.2:n.*1425T>C
ENST00000579314.5:c.*1399T>C	ENSP00000462599.1:n.*1399T>C
ENST00000579409.1:c.357T>C
ENST00000582244.1:n.544T>C
NM_000789.3:c.3670T>C	NP_000780.1:p.Tyr1224His
NM_001178057.1:c.1825T>C	NP_001171528.1:p.Tyr609His
NM_152830.2:c.1948T>C	NP_690043.1:p.Tyr650His
XM_005257110.1:c.3121T>C	XP_005257167.1:p.Tyr1041His
XM_006721737.2:c.2008T>C	XP_006721800.2:p.Tyr670His
XM_006721737.3:c.2008T>C	XP_006721800.2:p.Tyr670His
NM_000789.4:c.3670T>C MANE Select	NP_000780.1:p.Tyr1224His
NM_001178057.2:c.1825T>C	NP_001171528.1:p.Tyr609His
NM_152830.3:c.1948T>C	NP_690043.1:p.Tyr650His
NM_001382700.1:c.3103T>C	NP_001369629.1:p.Tyr1035His
NM_001382701.1:c.2818T>C	NP_001369630.1:p.Tyr940His
NM_001382702.1:c.1285T>C	NP_001369631.1:p.Tyr429His
NR_168483.1:n.2048T>C