Canonical Allele Identifier: CA400557944

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566083G>T (hg19) ; chr17:g.63488722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488722G>T , CM000679.2:g.63488722G>T	GRCh38
NC_000017.10:g.61566083G>T , CM000679.1:g.61566083G>T	GRCh37
NC_000017.9:g.58919815G>T	NCBI36
NG_011648.1:g.16650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2380G>T MANE Select	ENSP00000290866.4:p.Ala794Ser
ENST00000290863.10:c.658G>T	ENSP00000290863.6:p.Ala220Ser
ENST00000290866.9:c.2380G>T	ENSP00000290866.4:p.Ala794Ser
ENST00000413513.7:c.658G>T	ENSP00000392247.3:p.Ala220Ser
ENST00000428043.5:c.2380G>T	ENSP00000397593.2:p.Ala794Ser
ENST00000577647.2:c.658G>T	ENSP00000464149.1:p.Ala220Ser
ENST00000578839.5:c.*450G>T	ENSP00000462110.2:n.*450G>T
ENST00000579204.1:c.639G>T	ENSP00000464629.1:n.639G>T
ENST00000579314.5:c.*109G>T	ENSP00000462599.1:n.*109G>T
ENST00000582005.5:c.*300G>T	ENSP00000462002.1:n.*300G>T
ENST00000582761.1:c.148G>T	ENSP00000462909.1:p.Ala50Ser
ENST00000584865.5:n.326G>T
NM_000789.3:c.2380G>T	NP_000780.1:p.Ala794Ser
NM_001178057.1:c.658G>T	NP_001171528.1:p.Ala220Ser
NM_152830.2:c.658G>T	NP_690043.1:p.Ala220Ser
XM_005257110.1:c.1831G>T	XP_005257167.1:p.Ala611Ser
XM_006721737.2:c.718G>T	XP_006721800.2:p.Ala240Ser
XM_006721737.3:c.718G>T	XP_006721800.2:p.Ala240Ser
NM_000789.4:c.2380G>T MANE Select	NP_000780.1:p.Ala794Ser
NM_001178057.2:c.658G>T	NP_001171528.1:p.Ala220Ser
NM_152830.3:c.658G>T	NP_690043.1:p.Ala220Ser
NM_001382700.1:c.1813G>T	NP_001369629.1:p.Ala605Ser
NM_001382701.1:c.1528G>T	NP_001369630.1:p.Ala510Ser
NM_001382702.1:c.310G>T	NP_001369631.1:p.Ala104Ser
NR_168483.1:n.758G>T