Canonical Allele Identifier: CA400568708

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574568G>C (hg19) ; chr17:g.63497207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497207G>C , CM000679.2:g.63497207G>C	GRCh38
NC_000017.10:g.61574568G>C , CM000679.1:g.61574568G>C	GRCh37
NC_000017.9:g.58928300G>C	NCBI36
NG_011648.1:g.25135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3762G>C MANE Select	ENSP00000290866.4:p.Gln1254His
ENST00000290863.10:c.2040G>C	ENSP00000290863.6:p.Gln680His
ENST00000290866.9:c.3762G>C	ENSP00000290866.4:p.Gln1254His
ENST00000413513.7:c.1917G>C	ENSP00000392247.3:p.Gln639His
ENST00000428043.5:c.*184G>C	ENSP00000397593.2:n.*184G>C
ENST00000577647.2:c.1969+222G>C	ENSP00000464149.1:n.1969+222G>C
ENST00000578839.5:c.*1517G>C	ENSP00000462110.2:n.*1517G>C
ENST00000579314.5:c.*1491G>C	ENSP00000462599.1:n.*1491G>C
NM_000789.3:c.3762G>C	NP_000780.1:p.Gln1254His
NM_001178057.1:c.1917G>C	NP_001171528.1:p.Gln639His
NM_152830.2:c.2040G>C	NP_690043.1:p.Gln680His
XM_005257110.1:c.3213G>C	XP_005257167.1:p.Gln1071His
XM_006721737.2:c.2100G>C	XP_006721800.2:p.Gln700His
XM_006721737.3:c.2100G>C	XP_006721800.2:p.Gln700His
NM_000789.4:c.3762G>C MANE Select	NP_000780.1:p.Gln1254His
NM_001178057.2:c.1917G>C	NP_001171528.1:p.Gln639His
NM_152830.3:c.2040G>C	NP_690043.1:p.Gln680His
NM_001382700.1:c.3195G>C	NP_001369629.1:p.Gln1065His
NM_001382701.1:c.2910G>C	NP_001369630.1:p.Gln970His
NM_001382702.1:c.1377G>C	NP_001369631.1:p.Gln459His
NR_168483.1:n.2140G>C