Canonical Allele Identifier: CA400558042

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566129T>C (hg19) ; chr17:g.63488768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488768T>C , CM000679.2:g.63488768T>C	GRCh38
NC_000017.10:g.61566129T>C , CM000679.1:g.61566129T>C	GRCh37
NC_000017.9:g.58919861T>C	NCBI36
NG_011648.1:g.16696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2426T>C MANE Select	ENSP00000290866.4:p.Ile809Thr
ENST00000290863.10:c.704T>C	ENSP00000290863.6:p.Ile235Thr
ENST00000290866.9:c.2426T>C	ENSP00000290866.4:p.Ile809Thr
ENST00000413513.7:c.704T>C	ENSP00000392247.3:p.Ile235Thr
ENST00000428043.5:c.2426T>C	ENSP00000397593.2:p.Ile809Thr
ENST00000577647.2:c.704T>C	ENSP00000464149.1:p.Ile235Thr
ENST00000578839.5:c.*496T>C	ENSP00000462110.2:n.*496T>C
ENST00000579204.1:c.685T>C	ENSP00000464629.1:n.685T>C
ENST00000579314.5:c.*155T>C	ENSP00000462599.1:n.*155T>C
ENST00000582005.5:c.*346T>C	ENSP00000462002.1:n.*346T>C
ENST00000582761.1:c.194T>C	ENSP00000462909.1:p.Ile65Thr
ENST00000584865.5:n.372T>C
NM_000789.3:c.2426T>C	NP_000780.1:p.Ile809Thr
NM_001178057.1:c.704T>C	NP_001171528.1:p.Ile235Thr
NM_152830.2:c.704T>C	NP_690043.1:p.Ile235Thr
XM_005257110.1:c.1877T>C	XP_005257167.1:p.Ile626Thr
XM_006721737.2:c.764T>C	XP_006721800.2:p.Ile255Thr
XM_006721737.3:c.764T>C	XP_006721800.2:p.Ile255Thr
NM_000789.4:c.2426T>C MANE Select	NP_000780.1:p.Ile809Thr
NM_001178057.2:c.704T>C	NP_001171528.1:p.Ile235Thr
NM_152830.3:c.704T>C	NP_690043.1:p.Ile235Thr
NM_001382700.1:c.1859T>C	NP_001369629.1:p.Ile620Thr
NM_001382701.1:c.1574T>C	NP_001369630.1:p.Ile525Thr
NM_001382702.1:c.356T>C	NP_001369631.1:p.Ile119Thr
NR_168483.1:n.804T>C