Canonical Allele Identifier: CA8700144

Gene: ACE

Linked Data

• dbSNP Id: rs537201274
• ExAC: 17:61566377 T / C
• gnomAD v2: 17-61566377-T-C
• gnomAD v3: 17-63489016-T-C
• gnomAD v4: 17-63489016-T-C
• MyVariant Identifiers: chr17:g.61566377T>C (hg19) ; chr17:g.63489016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489016T>C , CM000679.2:g.63489016T>C	GRCh38
NC_000017.10:g.61566377T>C , CM000679.1:g.61566377T>C	GRCh37
NC_000017.9:g.58920109T>C	NCBI36
NG_011648.1:g.16944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2525T>C MANE Select	ENSP00000290866.4:p.Phe842Ser
ENST00000290863.10:c.803T>C	ENSP00000290863.6:p.Phe268Ser
ENST00000290866.9:c.2525T>C	ENSP00000290866.4:p.Phe842Ser
ENST00000413513.7:c.803T>C	ENSP00000392247.3:p.Phe268Ser
ENST00000428043.5:c.2525T>C	ENSP00000397593.2:p.Phe842Ser
ENST00000577647.2:c.803T>C	ENSP00000464149.1:p.Phe268Ser
ENST00000578839.5:c.*519+225T>C	ENSP00000462110.2:n.*519+225T>C
ENST00000579204.1:c.784T>C	ENSP00000464629.1:n.784T>C
ENST00000579314.5:c.*254T>C	ENSP00000462599.1:n.*254T>C
ENST00000582005.5:c.*445T>C	ENSP00000462002.1:n.*445T>C
ENST00000582761.1:c.293T>C	ENSP00000462909.1:p.Phe98Ser
ENST00000584865.5:n.471T>C
NM_000789.3:c.2525T>C	NP_000780.1:p.Phe842Ser
NM_001178057.1:c.803T>C	NP_001171528.1:p.Phe268Ser
NM_152830.2:c.803T>C	NP_690043.1:p.Phe268Ser
XM_005257110.1:c.1976T>C	XP_005257167.1:p.Phe659Ser
XM_006721737.2:c.863T>C	XP_006721800.2:p.Phe288Ser
XM_006721737.3:c.863T>C	XP_006721800.2:p.Phe288Ser
NM_000789.4:c.2525T>C MANE Select	NP_000780.1:p.Phe842Ser
NM_001178057.2:c.803T>C	NP_001171528.1:p.Phe268Ser
NM_152830.3:c.803T>C	NP_690043.1:p.Phe268Ser
NM_001382700.1:c.1958T>C	NP_001369629.1:p.Phe653Ser
NM_001382701.1:c.1673T>C	NP_001369630.1:p.Phe558Ser
NM_001382702.1:c.379+225T>C	NP_001369631.1:n.379+225T>C
NR_168483.1:n.903T>C