Canonical Allele Identifier: CA400558211

Gene: ACE

Linked Data

• gnomAD v4: 17-63488983-C-A
• MyVariant Identifiers: chr17:g.61566344C>A (hg19) ; chr17:g.63488983C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488983C>A , CM000679.2:g.63488983C>A	GRCh38
NC_000017.10:g.61566344C>A , CM000679.1:g.61566344C>A	GRCh37
NC_000017.9:g.58920076C>A	NCBI36
NG_011648.1:g.16911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2492C>A MANE Select	ENSP00000290866.4:p.Thr831Lys
ENST00000290863.10:c.770C>A	ENSP00000290863.6:p.Thr257Lys
ENST00000290866.9:c.2492C>A	ENSP00000290866.4:p.Thr831Lys
ENST00000413513.7:c.770C>A	ENSP00000392247.3:p.Thr257Lys
ENST00000428043.5:c.2492C>A	ENSP00000397593.2:p.Thr831Lys
ENST00000577647.2:c.770C>A	ENSP00000464149.1:p.Thr257Lys
ENST00000578839.5:c.*519+192C>A	ENSP00000462110.2:n.*519+192C>A
ENST00000579204.1:c.751C>A	ENSP00000464629.1:n.751C>A
ENST00000579314.5:c.*221C>A	ENSP00000462599.1:n.*221C>A
ENST00000582005.5:c.*412C>A	ENSP00000462002.1:n.*412C>A
ENST00000582761.1:c.260C>A	ENSP00000462909.1:p.Thr87Lys
ENST00000584865.5:n.438C>A
NM_000789.3:c.2492C>A	NP_000780.1:p.Thr831Lys
NM_001178057.1:c.770C>A	NP_001171528.1:p.Thr257Lys
NM_152830.2:c.770C>A	NP_690043.1:p.Thr257Lys
XM_005257110.1:c.1943C>A	XP_005257167.1:p.Thr648Lys
XM_006721737.2:c.830C>A	XP_006721800.2:p.Thr277Lys
XM_006721737.3:c.830C>A	XP_006721800.2:p.Thr277Lys
NM_000789.4:c.2492C>A MANE Select	NP_000780.1:p.Thr831Lys
NM_001178057.2:c.770C>A	NP_001171528.1:p.Thr257Lys
NM_152830.3:c.770C>A	NP_690043.1:p.Thr257Lys
NM_001382700.1:c.1925C>A	NP_001369629.1:p.Thr642Lys
NM_001382701.1:c.1640C>A	NP_001369630.1:p.Thr547Lys
NM_001382702.1:c.379+192C>A	NP_001369631.1:n.379+192C>A
NR_168483.1:n.870C>A