Canonical Allele Identifier: CA8700145

Gene: ACE

Linked Data

• dbSNP Id: rs777909386
• ExAC: 17:61566378 C / T
• gnomAD v2: 17-61566378-C-T
• MyVariant Identifiers: chr17:g.61566378C>T (hg19) ; chr17:g.63489017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489017C>T , CM000679.2:g.63489017C>T	GRCh38
NC_000017.10:g.61566378C>T , CM000679.1:g.61566378C>T	GRCh37
NC_000017.9:g.58920110C>T	NCBI36
NG_011648.1:g.16945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2526C>T MANE Select	ENSP00000290866.4:p.Phe842=
ENST00000290863.10:c.804C>T	ENSP00000290863.6:p.Phe268=
ENST00000290866.9:c.2526C>T	ENSP00000290866.4:p.Phe842=
ENST00000413513.7:c.804C>T	ENSP00000392247.3:p.Phe268=
ENST00000428043.5:c.2526C>T	ENSP00000397593.2:p.Phe842=
ENST00000577647.2:c.804C>T	ENSP00000464149.1:p.Phe268=
ENST00000578839.5:c.*519+226C>T	ENSP00000462110.2:n.*519+226C>T
ENST00000579204.1:c.785C>T	ENSP00000464629.1:n.785C>T
ENST00000579314.5:c.*255C>T	ENSP00000462599.1:n.*255C>T
ENST00000582005.5:c.*446C>T	ENSP00000462002.1:n.*446C>T
ENST00000582761.1:c.294C>T	ENSP00000462909.1:p.Phe98=
ENST00000584865.5:n.472C>T
NM_000789.3:c.2526C>T	NP_000780.1:p.Phe842=
NM_001178057.1:c.804C>T	NP_001171528.1:p.Phe268=
NM_152830.2:c.804C>T	NP_690043.1:p.Phe268=
XM_005257110.1:c.1977C>T	XP_005257167.1:p.Phe659=
XM_006721737.2:c.864C>T	XP_006721800.2:p.Phe288=
XM_006721737.3:c.864C>T	XP_006721800.2:p.Phe288=
NM_000789.4:c.2526C>T MANE Select	NP_000780.1:p.Phe842=
NM_001178057.2:c.804C>T	NP_001171528.1:p.Phe268=
NM_152830.3:c.804C>T	NP_690043.1:p.Phe268=
NM_001382700.1:c.1959C>T	NP_001369629.1:p.Phe653=
NM_001382701.1:c.1674C>T	NP_001369630.1:p.Phe558=
NM_001382702.1:c.379+226C>T	NP_001369631.1:n.379+226C>T
NR_168483.1:n.904C>T