Canonical Allele Identifier: CA400555955

Gene: ACE

Linked Data

• gnomAD v4: 17-63486624-T-C
• MyVariant Identifiers: chr17:g.61563985T>C (hg19) ; chr17:g.63486624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486624T>C , CM000679.2:g.63486624T>C	GRCh38
NC_000017.10:g.61563985T>C , CM000679.1:g.61563985T>C	GRCh37
NC_000017.9:g.58917717T>C	NCBI36
NG_011648.1:g.14552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2126T>C MANE Select	ENSP00000290866.4:p.Val709Ala
ENST00000290863.10:c.404T>C	ENSP00000290863.6:p.Val135Ala
ENST00000290866.9:c.2126T>C	ENSP00000290866.4:p.Val709Ala
ENST00000413513.7:c.404T>C	ENSP00000392247.3:p.Val135Ala
ENST00000428043.5:c.2126T>C	ENSP00000397593.2:p.Val709Ala
ENST00000577647.2:c.404T>C	ENSP00000464149.1:p.Val135Ala
ENST00000578839.5:c.*196T>C	ENSP00000462110.2:n.*196T>C
ENST00000579204.1:c.307T>C	ENSP00000464629.1:n.307T>C
ENST00000579314.5:c.404T>C	ENSP00000462599.1:p.Val135Ala
ENST00000579726.5:c.688T>C
ENST00000582005.5:c.*46T>C	ENSP00000462002.1:n.*46T>C
NM_000789.3:c.2126T>C	NP_000780.1:p.Val709Ala
NM_001178057.1:c.404T>C	NP_001171528.1:p.Val135Ala
NM_152830.2:c.404T>C	NP_690043.1:p.Val135Ala
XM_005257110.1:c.1577T>C	XP_005257167.1:p.Val526Ala
XM_006721737.2:c.464T>C	XP_006721800.2:p.Val155Ala
XM_006721737.3:c.464T>C	XP_006721800.2:p.Val155Ala
NM_000789.4:c.2126T>C MANE Select	NP_000780.1:p.Val709Ala
NM_001178057.2:c.404T>C	NP_001171528.1:p.Val135Ala
NM_152830.3:c.404T>C	NP_690043.1:p.Val135Ala
NM_001382700.1:c.1559T>C	NP_001369629.1:p.Val520Ala
NM_001382701.1:c.1274T>C	NP_001369630.1:p.Val425Ala
NM_001382702.1:c.56T>C	NP_001369631.1:p.Val19Ala
NR_168483.1:n.426T>C