Canonical Allele Identifier: CA400556868

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564409T>A (hg19) ; chr17:g.63487048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487048T>A , CM000679.2:g.63487048T>A	GRCh38
NC_000017.10:g.61564409T>A , CM000679.1:g.61564409T>A	GRCh37
NC_000017.9:g.58918141T>A	NCBI36
NG_011648.1:g.14976T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2280T>A MANE Select	ENSP00000290866.4:p.Asn760Lys
ENST00000290863.10:c.558T>A	ENSP00000290863.6:p.Asn186Lys
ENST00000290866.9:c.2280T>A	ENSP00000290866.4:p.Asn760Lys
ENST00000413513.7:c.558T>A	ENSP00000392247.3:p.Asn186Lys
ENST00000428043.5:c.2280T>A	ENSP00000397593.2:p.Asn760Lys
ENST00000577647.2:c.558T>A	ENSP00000464149.1:p.Asn186Lys
ENST00000578839.5:c.*350T>A	ENSP00000462110.2:n.*350T>A
ENST00000579204.1:c.461T>A	ENSP00000464629.1:n.461T>A
ENST00000579314.5:c.558T>A	ENSP00000462599.1:p.Asn186Lys
ENST00000579726.5:c.842T>A
ENST00000582005.5:c.*200T>A	ENSP00000462002.1:n.*200T>A
ENST00000582761.1:c.48T>A	ENSP00000462909.1:p.Asn16Lys
ENST00000584865.5:n.226T>A
NM_000789.3:c.2280T>A	NP_000780.1:p.Asn760Lys
NM_001178057.1:c.558T>A	NP_001171528.1:p.Asn186Lys
NM_152830.2:c.558T>A	NP_690043.1:p.Asn186Lys
XM_005257110.1:c.1731T>A	XP_005257167.1:p.Asn577Lys
XM_006721737.2:c.618T>A	XP_006721800.2:p.Asn206Lys
XM_006721737.3:c.618T>A	XP_006721800.2:p.Asn206Lys
NM_000789.4:c.2280T>A MANE Select	NP_000780.1:p.Asn760Lys
NM_001178057.2:c.558T>A	NP_001171528.1:p.Asn186Lys
NM_152830.3:c.558T>A	NP_690043.1:p.Asn186Lys
NM_001382700.1:c.1713T>A	NP_001369629.1:p.Asn571Lys
NM_001382701.1:c.1428T>A	NP_001369630.1:p.Asn476Lys
NM_001382702.1:c.210T>A	NP_001369631.1:p.Asn70Lys
NR_168483.1:n.580T>A