Canonical Allele Identifier: CA400540603

Gene: ACE

Linked Data

• gnomAD v4: 17-63477952-C-T
• MyVariant Identifiers: chr17:g.61555313C>T (hg19) ; chr17:g.63477952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477952C>T , CM000679.2:g.63477952C>T	GRCh38
NC_000017.10:g.61555313C>T , CM000679.1:g.61555313C>T	GRCh37
NC_000017.9:g.58909045C>T	NCBI36
NG_011648.1:g.5880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.271C>T MANE Select	ENSP00000290866.4:p.Gln91Ter
ENST00000290866.9:c.271C>T	ENSP00000290866.4:p.Gln91Ter
ENST00000428043.5:c.271C>T	ENSP00000397593.2:p.Gln91Ter
ENST00000579462.1:n.296C>T
ENST00000580318.1:n.460C>T
ENST00000582627.1:c.271C>T	ENSP00000462280.1:p.Gln91Ter
ENST00000582678.5:c.271C>T	ENSP00000462995.1:p.Gln91Ter
ENST00000583336.5:n.305C>T
ENST00000584529.5:n.305C>T
NM_000789.3:c.271C>T	NP_000780.1:p.Gln91Ter
XM_005257110.1:c.-185C>T	XP_005257167.1:n.-185C>T
NM_000789.4:c.271C>T MANE Select	NP_000780.1:p.Gln91Ter
NM_001382700.1:c.36C>T	NP_001369629.1:p.Ala12=
NM_001382701.1:c.-344C>T	NP_001369630.1:n.-344C>T