Canonical Allele Identifier: CA400558015

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566116T>C (hg19) ; chr17:g.63488755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488755T>C , CM000679.2:g.63488755T>C	GRCh38
NC_000017.10:g.61566116T>C , CM000679.1:g.61566116T>C	GRCh37
NC_000017.9:g.58919848T>C	NCBI36
NG_011648.1:g.16683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2413T>C MANE Select	ENSP00000290866.4:p.Tyr805His
ENST00000290863.10:c.691T>C	ENSP00000290863.6:p.Tyr231His
ENST00000290866.9:c.2413T>C	ENSP00000290866.4:p.Tyr805His
ENST00000413513.7:c.691T>C	ENSP00000392247.3:p.Tyr231His
ENST00000428043.5:c.2413T>C	ENSP00000397593.2:p.Tyr805His
ENST00000577647.2:c.691T>C	ENSP00000464149.1:p.Tyr231His
ENST00000578839.5:c.*483T>C	ENSP00000462110.2:n.*483T>C
ENST00000579204.1:c.672T>C	ENSP00000464629.1:n.672T>C
ENST00000579314.5:c.*142T>C	ENSP00000462599.1:n.*142T>C
ENST00000582005.5:c.*333T>C	ENSP00000462002.1:n.*333T>C
ENST00000582761.1:c.181T>C	ENSP00000462909.1:p.Tyr61His
ENST00000584865.5:n.359T>C
NM_000789.3:c.2413T>C	NP_000780.1:p.Tyr805His
NM_001178057.1:c.691T>C	NP_001171528.1:p.Tyr231His
NM_152830.2:c.691T>C	NP_690043.1:p.Tyr231His
XM_005257110.1:c.1864T>C	XP_005257167.1:p.Tyr622His
XM_006721737.2:c.751T>C	XP_006721800.2:p.Tyr251His
XM_006721737.3:c.751T>C	XP_006721800.2:p.Tyr251His
NM_000789.4:c.2413T>C MANE Select	NP_000780.1:p.Tyr805His
NM_001178057.2:c.691T>C	NP_001171528.1:p.Tyr231His
NM_152830.3:c.691T>C	NP_690043.1:p.Tyr231His
NM_001382700.1:c.1846T>C	NP_001369629.1:p.Tyr616His
NM_001382701.1:c.1561T>C	NP_001369630.1:p.Tyr521His
NM_001382702.1:c.343T>C	NP_001369631.1:p.Tyr115His
NR_168483.1:n.791T>C