Canonical Allele Identifier: CA400569003

Gene: ACE

Linked Data

• gnomAD v4: 17-63497257-T-C
• MyVariant Identifiers: chr17:g.61574618T>C (hg19) ; chr17:g.63497257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497257T>C , CM000679.2:g.63497257T>C	GRCh38
NC_000017.10:g.61574618T>C , CM000679.1:g.61574618T>C	GRCh37
NC_000017.9:g.58928350T>C	NCBI36
NG_011648.1:g.25185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3812T>C MANE Select	ENSP00000290866.4:p.Val1271Ala
ENST00000290863.10:c.2090T>C	ENSP00000290863.6:p.Val697Ala
ENST00000290866.9:c.3812T>C	ENSP00000290866.4:p.Val1271Ala
ENST00000413513.7:c.1967T>C	ENSP00000392247.3:p.Val656Ala
ENST00000428043.5:c.*234T>C	ENSP00000397593.2:n.*234T>C
ENST00000577647.2:c.1969+272T>C	ENSP00000464149.1:n.1969+272T>C
ENST00000578839.5:c.*1567T>C	ENSP00000462110.2:n.*1567T>C
ENST00000579314.5:c.*1541T>C	ENSP00000462599.1:n.*1541T>C
NM_000789.3:c.3812T>C	NP_000780.1:p.Val1271Ala
NM_001178057.1:c.1967T>C	NP_001171528.1:p.Val656Ala
NM_152830.2:c.2090T>C	NP_690043.1:p.Val697Ala
XM_005257110.1:c.3263T>C	XP_005257167.1:p.Val1088Ala
XM_006721737.2:c.2150T>C	XP_006721800.2:p.Val717Ala
XM_006721737.3:c.2150T>C	XP_006721800.2:p.Val717Ala
NM_000789.4:c.3812T>C MANE Select	NP_000780.1:p.Val1271Ala
NM_001178057.2:c.1967T>C	NP_001171528.1:p.Val656Ala
NM_152830.3:c.2090T>C	NP_690043.1:p.Val697Ala
NM_001382700.1:c.3245T>C	NP_001369629.1:p.Val1082Ala
NM_001382701.1:c.2960T>C	NP_001369630.1:p.Val987Ala
NM_001382702.1:c.1427T>C	NP_001369631.1:p.Val476Ala
NR_168483.1:n.2190T>C