Canonical Allele Identifier: CA400557989

Gene: ACE

Linked Data

• dbSNP Id: rs1568043122
• MyVariant Identifiers: chr17:g.61566105T>C (hg19) ; chr17:g.63488744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488744T>C , CM000679.2:g.63488744T>C	GRCh38
NC_000017.10:g.61566105T>C , CM000679.1:g.61566105T>C	GRCh37
NC_000017.9:g.58919837T>C	NCBI36
NG_011648.1:g.16672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2402T>C MANE Select	ENSP00000290866.4:p.Phe801Ser
ENST00000290863.10:c.680T>C	ENSP00000290863.6:p.Phe227Ser
ENST00000290866.9:c.2402T>C	ENSP00000290866.4:p.Phe801Ser
ENST00000413513.7:c.680T>C	ENSP00000392247.3:p.Phe227Ser
ENST00000428043.5:c.2402T>C	ENSP00000397593.2:p.Phe801Ser
ENST00000577647.2:c.680T>C	ENSP00000464149.1:p.Phe227Ser
ENST00000578839.5:c.*472T>C	ENSP00000462110.2:n.*472T>C
ENST00000579204.1:c.661T>C	ENSP00000464629.1:n.661T>C
ENST00000579314.5:c.*131T>C	ENSP00000462599.1:n.*131T>C
ENST00000582005.5:c.*322T>C	ENSP00000462002.1:n.*322T>C
ENST00000582761.1:c.170T>C	ENSP00000462909.1:p.Phe57Ser
ENST00000584865.5:n.348T>C
NM_000789.3:c.2402T>C	NP_000780.1:p.Phe801Ser
NM_001178057.1:c.680T>C	NP_001171528.1:p.Phe227Ser
NM_152830.2:c.680T>C	NP_690043.1:p.Phe227Ser
XM_005257110.1:c.1853T>C	XP_005257167.1:p.Phe618Ser
XM_006721737.2:c.740T>C	XP_006721800.2:p.Phe247Ser
XM_006721737.3:c.740T>C	XP_006721800.2:p.Phe247Ser
NM_000789.4:c.2402T>C MANE Select	NP_000780.1:p.Phe801Ser
NM_001178057.2:c.680T>C	NP_001171528.1:p.Phe227Ser
NM_152830.3:c.680T>C	NP_690043.1:p.Phe227Ser
NM_001382700.1:c.1835T>C	NP_001369629.1:p.Phe612Ser
NM_001382701.1:c.1550T>C	NP_001369630.1:p.Phe517Ser
NM_001382702.1:c.332T>C	NP_001369631.1:p.Phe111Ser
NR_168483.1:n.780T>C