Canonical Allele Identifier: CA8700131

Gene: ACE

Linked Data

• dbSNP Id: rs200757344
• ExAC: 17:61566332 C / G
• gnomAD v2: 17-61566332-C-G
• gnomAD v3: 17-63488971-C-G
• gnomAD v4: 17-63488971-C-G
• MyVariant Identifiers: chr17:g.61566332C>G (hg19) ; chr17:g.63488971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488971C>G , CM000679.2:g.63488971C>G	GRCh38
NC_000017.10:g.61566332C>G , CM000679.1:g.61566332C>G	GRCh37
NC_000017.9:g.58920064C>G	NCBI36
NG_011648.1:g.16899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2480C>G MANE Select	ENSP00000290866.4:p.Ser827Cys
ENST00000290863.10:c.758C>G	ENSP00000290863.6:p.Ser253Cys
ENST00000290866.9:c.2480C>G	ENSP00000290866.4:p.Ser827Cys
ENST00000413513.7:c.758C>G	ENSP00000392247.3:p.Ser253Cys
ENST00000428043.5:c.2480C>G	ENSP00000397593.2:p.Ser827Cys
ENST00000577647.2:c.758C>G	ENSP00000464149.1:p.Ser253Cys
ENST00000578839.5:c.*519+180C>G	ENSP00000462110.2:n.*519+180C>G
ENST00000579204.1:c.739C>G	ENSP00000464629.1:n.739C>G
ENST00000579314.5:c.*209C>G	ENSP00000462599.1:n.*209C>G
ENST00000582005.5:c.*400C>G	ENSP00000462002.1:n.*400C>G
ENST00000582761.1:c.248C>G	ENSP00000462909.1:p.Ser83Cys
ENST00000584865.5:n.426C>G
NM_000789.3:c.2480C>G	NP_000780.1:p.Ser827Cys
NM_001178057.1:c.758C>G	NP_001171528.1:p.Ser253Cys
NM_152830.2:c.758C>G	NP_690043.1:p.Ser253Cys
XM_005257110.1:c.1931C>G	XP_005257167.1:p.Ser644Cys
XM_006721737.2:c.818C>G	XP_006721800.2:p.Ser273Cys
XM_006721737.3:c.818C>G	XP_006721800.2:p.Ser273Cys
NM_000789.4:c.2480C>G MANE Select	NP_000780.1:p.Ser827Cys
NM_001178057.2:c.758C>G	NP_001171528.1:p.Ser253Cys
NM_152830.3:c.758C>G	NP_690043.1:p.Ser253Cys
NM_001382700.1:c.1913C>G	NP_001369629.1:p.Ser638Cys
NM_001382701.1:c.1628C>G	NP_001369630.1:p.Ser543Cys
NM_001382702.1:c.379+180C>G	NP_001369631.1:n.379+180C>G
NR_168483.1:n.858C>G