Canonical Allele Identifier: CA400568574

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574551G>C (hg19) ; chr17:g.63497190G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497190G>C , CM000679.2:g.63497190G>C	GRCh38
NC_000017.10:g.61574551G>C , CM000679.1:g.61574551G>C	GRCh37
NC_000017.9:g.58928283G>C	NCBI36
NG_011648.1:g.25118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3745G>C MANE Select	ENSP00000290866.4:p.Asp1249His
ENST00000290863.10:c.2023G>C	ENSP00000290863.6:p.Asp675His
ENST00000290866.9:c.3745G>C	ENSP00000290866.4:p.Asp1249His
ENST00000413513.7:c.1900G>C	ENSP00000392247.3:p.Asp634His
ENST00000428043.5:c.*167G>C	ENSP00000397593.2:n.*167G>C
ENST00000577647.2:c.1969+205G>C	ENSP00000464149.1:n.1969+205G>C
ENST00000578839.5:c.*1500G>C	ENSP00000462110.2:n.*1500G>C
ENST00000579314.5:c.*1474G>C	ENSP00000462599.1:n.*1474G>C
NM_000789.3:c.3745G>C	NP_000780.1:p.Asp1249His
NM_001178057.1:c.1900G>C	NP_001171528.1:p.Asp634His
NM_152830.2:c.2023G>C	NP_690043.1:p.Asp675His
XM_005257110.1:c.3196G>C	XP_005257167.1:p.Asp1066His
XM_006721737.2:c.2083G>C	XP_006721800.2:p.Asp695His
XM_006721737.3:c.2083G>C	XP_006721800.2:p.Asp695His
NM_000789.4:c.3745G>C MANE Select	NP_000780.1:p.Asp1249His
NM_001178057.2:c.1900G>C	NP_001171528.1:p.Asp634His
NM_152830.3:c.2023G>C	NP_690043.1:p.Asp675His
NM_001382700.1:c.3178G>C	NP_001369629.1:p.Asp1060His
NM_001382701.1:c.2893G>C	NP_001369630.1:p.Asp965His
NM_001382702.1:c.1360G>C	NP_001369631.1:p.Asp454His
NR_168483.1:n.2123G>C