Canonical Allele Identifier: CA400569241

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574654T>C (hg19) ; chr17:g.63497293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497293T>C , CM000679.2:g.63497293T>C	GRCh38
NC_000017.10:g.61574654T>C , CM000679.1:g.61574654T>C	GRCh37
NC_000017.9:g.58928386T>C	NCBI36
NG_011648.1:g.25221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3848T>C MANE Select	ENSP00000290866.4:p.Ile1283Thr
ENST00000290863.10:c.2126T>C	ENSP00000290863.6:p.Ile709Thr
ENST00000290866.9:c.3848T>C	ENSP00000290866.4:p.Ile1283Thr
ENST00000413513.7:c.2003T>C	ENSP00000392247.3:p.Ile668Thr
ENST00000428043.5:c.*270T>C	ENSP00000397593.2:n.*270T>C
ENST00000577647.2:c.1969+308T>C	ENSP00000464149.1:n.1969+308T>C
ENST00000578839.5:c.*1603T>C	ENSP00000462110.2:n.*1603T>C
ENST00000579314.5:c.*1577T>C	ENSP00000462599.1:n.*1577T>C
NM_000789.3:c.3848T>C	NP_000780.1:p.Ile1283Thr
NM_001178057.1:c.2003T>C	NP_001171528.1:p.Ile668Thr
NM_152830.2:c.2126T>C	NP_690043.1:p.Ile709Thr
XM_005257110.1:c.3299T>C	XP_005257167.1:p.Ile1100Thr
XM_006721737.2:c.2186T>C	XP_006721800.2:p.Ile729Thr
XM_006721737.3:c.2186T>C	XP_006721800.2:p.Ile729Thr
NM_000789.4:c.3848T>C MANE Select	NP_000780.1:p.Ile1283Thr
NM_001178057.2:c.2003T>C	NP_001171528.1:p.Ile668Thr
NM_152830.3:c.2126T>C	NP_690043.1:p.Ile709Thr
NM_001382700.1:c.3281T>C	NP_001369629.1:p.Ile1094Thr
NM_001382701.1:c.2996T>C	NP_001369630.1:p.Ile999Thr
NM_001382702.1:c.1463T>C	NP_001369631.1:p.Ile488Thr
NR_168483.1:n.2226T>C