Canonical Allele Identifier: CA400548820

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559841C>T (hg19) ; chr17:g.63482480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482480C>T , CM000679.2:g.63482480C>T	GRCh38
NC_000017.10:g.61559841C>T , CM000679.1:g.61559841C>T	GRCh37
NC_000017.9:g.58913573C>T	NCBI36
NG_011648.1:g.10408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1133C>T MANE Select	ENSP00000290866.4:p.Thr378Ile
ENST00000290866.9:c.1133C>T	ENSP00000290866.4:p.Thr378Ile
ENST00000428043.5:c.1133C>T	ENSP00000397593.2:p.Thr378Ile
ENST00000582678.5:c.*532C>T	ENSP00000462995.1:n.*532C>T
ENST00000584529.5:n.1167C>T
NM_000789.3:c.1133C>T	NP_000780.1:p.Thr378Ile
XM_005257110.1:c.584C>T	XP_005257167.1:p.Thr195Ile
NM_000789.4:c.1133C>T MANE Select	NP_000780.1:p.Thr378Ile
NM_001382700.1:c.566C>T	NP_001369629.1:p.Thr189Ile
NM_001382701.1:c.281C>T	NP_001369630.1:p.Thr94Ile