Canonical Allele Identifier: CA400548717

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61559829T>C (hg19) ; chr17:g.63482468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63482468T>C , CM000679.2:g.63482468T>C	GRCh38
NC_000017.10:g.61559829T>C , CM000679.1:g.61559829T>C	GRCh37
NC_000017.9:g.58913561T>C	NCBI36
NG_011648.1:g.10396T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.1121T>C MANE Select	ENSP00000290866.4:p.Ile374Thr
ENST00000290866.9:c.1121T>C	ENSP00000290866.4:p.Ile374Thr
ENST00000428043.5:c.1121T>C	ENSP00000397593.2:p.Ile374Thr
ENST00000582678.5:c.*520T>C	ENSP00000462995.1:n.*520T>C
ENST00000584529.5:n.1155T>C
NM_000789.3:c.1121T>C	NP_000780.1:p.Ile374Thr
XM_005257110.1:c.572T>C	XP_005257167.1:p.Ile191Thr
NM_000789.4:c.1121T>C MANE Select	NP_000780.1:p.Ile374Thr
NM_001382700.1:c.554T>C	NP_001369629.1:p.Ile185Thr
NM_001382701.1:c.269T>C	NP_001369630.1:p.Ile90Thr