Canonical Allele Identifier: CA8699153

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63479862C>T , CM000679.2:g.63479862C>T	GRCh38
NC_000017.10:g.61557223C>T , CM000679.1:g.61557223C>T	GRCh37
NC_000017.9:g.58910955C>T	NCBI36
NG_011648.1:g.7790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.605C>T MANE Select	ENSP00000290866.4:p.Pro202Leu
ENST00000290866.9:c.605C>T	ENSP00000290866.4:p.Pro202Leu
ENST00000428043.5:c.605C>T	ENSP00000397593.2:p.Pro202Leu
ENST00000580318.1:n.794C>T
ENST00000582627.1:c.605C>T	ENSP00000462280.1:p.Pro202Leu
ENST00000582678.5:c.*4C>T	ENSP00000462995.1:n.*4C>T
ENST00000584529.5:n.639C>T
NM_000789.3:c.605C>T	NP_000780.1:p.Pro202Leu
XM_005257110.1:c.56C>T	XP_005257167.1:p.Pro19Leu
NM_000789.4:c.605C>T MANE Select	NP_000780.1:p.Pro202Leu
NM_001382700.1:c.183-475C>T	NP_001369629.1:n.183-475C>T
NM_001382701.1:c.-197-475C>T	NP_001369630.1:n.-197-475C>T