Canonical Allele Identifier: CA400568684

Gene: ACE

Linked Data

• gnomAD v4: 17-63497204-G-C
• MyVariant Identifiers: chr17:g.61574565G>C (hg19) ; chr17:g.63497204G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497204G>C , CM000679.2:g.63497204G>C	GRCh38
NC_000017.10:g.61574565G>C , CM000679.1:g.61574565G>C	GRCh37
NC_000017.9:g.58928297G>C	NCBI36
NG_011648.1:g.25132G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3759G>C MANE Select	ENSP00000290866.4:p.Gln1253His
ENST00000290863.10:c.2037G>C	ENSP00000290863.6:p.Gln679His
ENST00000290866.9:c.3759G>C	ENSP00000290866.4:p.Gln1253His
ENST00000413513.7:c.1914G>C	ENSP00000392247.3:p.Gln638His
ENST00000428043.5:c.*181G>C	ENSP00000397593.2:n.*181G>C
ENST00000577647.2:c.1969+219G>C	ENSP00000464149.1:n.1969+219G>C
ENST00000578839.5:c.*1514G>C	ENSP00000462110.2:n.*1514G>C
ENST00000579314.5:c.*1488G>C	ENSP00000462599.1:n.*1488G>C
NM_000789.3:c.3759G>C	NP_000780.1:p.Gln1253His
NM_001178057.1:c.1914G>C	NP_001171528.1:p.Gln638His
NM_152830.2:c.2037G>C	NP_690043.1:p.Gln679His
XM_005257110.1:c.3210G>C	XP_005257167.1:p.Gln1070His
XM_006721737.2:c.2097G>C	XP_006721800.2:p.Gln699His
XM_006721737.3:c.2097G>C	XP_006721800.2:p.Gln699His
NM_000789.4:c.3759G>C MANE Select	NP_000780.1:p.Gln1253His
NM_001178057.2:c.1914G>C	NP_001171528.1:p.Gln638His
NM_152830.3:c.2037G>C	NP_690043.1:p.Gln679His
NM_001382700.1:c.3192G>C	NP_001369629.1:p.Gln1064His
NM_001382701.1:c.2907G>C	NP_001369630.1:p.Gln969His
NM_001382702.1:c.1374G>C	NP_001369631.1:p.Gln458His
NR_168483.1:n.2137G>C