Canonical Allele Identifier: CA400540834

Gene: ACE

Linked Data

• dbSNP Id: rs1599137221
• MyVariant Identifiers: chr17:g.61555418A>C (hg19) ; chr17:g.63478057A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478057A>C , CM000679.2:g.63478057A>C	GRCh38
NC_000017.10:g.61555418A>C , CM000679.1:g.61555418A>C	GRCh37
NC_000017.9:g.58909150A>C	NCBI36
NG_011648.1:g.5985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.376A>C MANE Select	ENSP00000290866.4:p.Thr126Pro
ENST00000290866.9:c.376A>C	ENSP00000290866.4:p.Thr126Pro
ENST00000428043.5:c.376A>C	ENSP00000397593.2:p.Thr126Pro
ENST00000579462.1:n.401A>C
ENST00000580318.1:n.565A>C
ENST00000582627.1:c.376A>C	ENSP00000462280.1:p.Thr126Pro
ENST00000582678.5:c.376A>C	ENSP00000462995.1:p.Thr126Pro
ENST00000583336.5:n.410A>C
ENST00000584529.5:n.410A>C
NM_000789.3:c.376A>C	NP_000780.1:p.Thr126Pro
XM_005257110.1:c.-80A>C	XP_005257167.1:n.-80A>C
NM_000789.4:c.376A>C MANE Select	NP_000780.1:p.Thr126Pro
NM_001382700.1:c.141A>C	NP_001369629.1:p.Ala47=
NM_001382701.1:c.-239A>C	NP_001369630.1:n.-239A>C