Canonical Allele Identifier: CA400558183

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566332C>A (hg19) ; chr17:g.63488971C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2480C>A MANE Select	ENSP00000290866.4:p.Ser827Tyr
ENST00000290863.10:c.758C>A	ENSP00000290863.6:p.Ser253Tyr
ENST00000290866.9:c.2480C>A	ENSP00000290866.4:p.Ser827Tyr
ENST00000413513.7:c.758C>A	ENSP00000392247.3:p.Ser253Tyr
ENST00000428043.5:c.2480C>A	ENSP00000397593.2:p.Ser827Tyr
ENST00000577647.2:c.758C>A	ENSP00000464149.1:p.Ser253Tyr
ENST00000578839.5:c.*519+180C>A	ENSP00000462110.2:n.*519+180C>A
ENST00000579204.1:c.739C>A	ENSP00000464629.1:n.739C>A
ENST00000579314.5:c.*209C>A	ENSP00000462599.1:n.*209C>A
ENST00000582005.5:c.*400C>A	ENSP00000462002.1:n.*400C>A
ENST00000582761.1:c.248C>A	ENSP00000462909.1:p.Ser83Tyr
ENST00000584865.5:n.426C>A
NM_000789.3:c.2480C>A	NP_000780.1:p.Ser827Tyr
NM_001178057.1:c.758C>A	NP_001171528.1:p.Ser253Tyr
NM_152830.2:c.758C>A	NP_690043.1:p.Ser253Tyr
XM_005257110.1:c.1931C>A	XP_005257167.1:p.Ser644Tyr
XM_006721737.2:c.818C>A	XP_006721800.2:p.Ser273Tyr
XM_006721737.3:c.818C>A	XP_006721800.2:p.Ser273Tyr
NM_000789.4:c.2480C>A MANE Select	NP_000780.1:p.Ser827Tyr
NM_001178057.2:c.758C>A	NP_001171528.1:p.Ser253Tyr
NM_152830.3:c.758C>A	NP_690043.1:p.Ser253Tyr
NM_001382700.1:c.1913C>A	NP_001369629.1:p.Ser638Tyr
NM_001382701.1:c.1628C>A	NP_001369630.1:p.Ser543Tyr
NM_001382702.1:c.379+180C>A	NP_001369631.1:n.379+180C>A
NR_168483.1:n.858C>A