Canonical Allele Identifier: CA8700146

Gene: ACE

Linked Data

• dbSNP Id: rs749222932
• ExAC: 17:61566387 G / C
• gnomAD v2: 17-61566387-G-C
• gnomAD v4: 17-63489026-G-C
• MyVariant Identifiers: chr17:g.61566387G>C (hg19) ; chr17:g.63489026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489026G>C , CM000679.2:g.63489026G>C	GRCh38
NC_000017.10:g.61566387G>C , CM000679.1:g.61566387G>C	GRCh37
NC_000017.9:g.58920119G>C	NCBI36
NG_011648.1:g.16954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2535G>C MANE Select	ENSP00000290866.4:p.Leu845=
ENST00000290863.10:c.813G>C	ENSP00000290863.6:p.Leu271=
ENST00000290866.9:c.2535G>C	ENSP00000290866.4:p.Leu845=
ENST00000413513.7:c.813G>C	ENSP00000392247.3:p.Leu271=
ENST00000428043.5:c.2535G>C	ENSP00000397593.2:p.Leu845=
ENST00000577647.2:c.813G>C	ENSP00000464149.1:p.Leu271=
ENST00000578839.5:c.*519+235G>C	ENSP00000462110.2:n.*519+235G>C
ENST00000579204.1:c.794G>C	ENSP00000464629.1:n.794G>C
ENST00000579314.5:c.*264G>C	ENSP00000462599.1:n.*264G>C
ENST00000582005.5:c.*455G>C	ENSP00000462002.1:n.*455G>C
ENST00000582761.1:c.303G>C	ENSP00000462909.1:p.Leu101=
ENST00000584865.5:n.481G>C
NM_000789.3:c.2535G>C	NP_000780.1:p.Leu845=
NM_001178057.1:c.813G>C	NP_001171528.1:p.Leu271=
NM_152830.2:c.813G>C	NP_690043.1:p.Leu271=
XM_005257110.1:c.1986G>C	XP_005257167.1:p.Leu662=
XM_006721737.2:c.873G>C	XP_006721800.2:p.Leu291=
XM_006721737.3:c.873G>C	XP_006721800.2:p.Leu291=
NM_000789.4:c.2535G>C MANE Select	NP_000780.1:p.Leu845=
NM_001178057.2:c.813G>C	NP_001171528.1:p.Leu271=
NM_152830.3:c.813G>C	NP_690043.1:p.Leu271=
NM_001382700.1:c.1968G>C	NP_001369629.1:p.Leu656=
NM_001382701.1:c.1683G>C	NP_001369630.1:p.Leu561=
NM_001382702.1:c.379+235G>C	NP_001369631.1:n.379+235G>C
NR_168483.1:n.913G>C