Canonical Allele Identifier: CA292881680

Gene: ACE

Linked Data

• dbSNP Id: rs3730031
• gnomAD v2: 17-61564202-T-C
• gnomAD v3: 17-63486841-T-C
• gnomAD v4: 17-63486841-T-C
• MyVariant Identifiers: chr17:g.61564202T>C (hg19) ; chr17:g.63486841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486841T>C , CM000679.2:g.63486841T>C	GRCh38
NC_000017.10:g.61564202T>C , CM000679.1:g.61564202T>C	GRCh37
NC_000017.9:g.58917934T>C	NCBI36
NG_011648.1:g.14769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2217+126T>C MANE Select	ENSP00000290866.4:n.2217+126T>C
ENST00000290863.10:c.495+126T>C	ENSP00000290863.6:n.495+126T>C
ENST00000290866.9:c.2217+126T>C	ENSP00000290866.4:n.2217+126T>C
ENST00000413513.7:c.495+126T>C	ENSP00000392247.3:n.495+126T>C
ENST00000428043.5:c.2217+126T>C	ENSP00000397593.2:n.2217+126T>C
ENST00000577647.2:c.495+126T>C	ENSP00000464149.1:n.495+126T>C
ENST00000578839.5:c.*287+126T>C	ENSP00000462110.2:n.*287+126T>C
ENST00000579204.1:c.398+126T>C	ENSP00000464629.1:n.398+126T>C
ENST00000579314.5:c.495+126T>C	ENSP00000462599.1:n.495+126T>C
ENST00000579726.5:c.779+126T>C
ENST00000582005.5:c.*137+126T>C	ENSP00000462002.1:n.*137+126T>C
ENST00000584865.5:n.19T>C
NM_000789.3:c.2217+126T>C	NP_000780.1:n.2217+126T>C
NM_001178057.1:c.495+126T>C	NP_001171528.1:n.495+126T>C
NM_152830.2:c.495+126T>C	NP_690043.1:n.495+126T>C
XM_005257110.1:c.1668+126T>C	XP_005257167.1:n.1668+126T>C
XM_006721737.2:c.555+126T>C	XP_006721800.2:n.555+126T>C
XM_006721737.3:c.555+126T>C	XP_006721800.2:n.555+126T>C
NM_000789.4:c.2217+126T>C MANE Select	NP_000780.1:n.2217+126T>C
NM_001178057.2:c.495+126T>C	NP_001171528.1:n.495+126T>C
NM_152830.3:c.495+126T>C	NP_690043.1:n.495+126T>C
NM_001382700.1:c.1650+126T>C	NP_001369629.1:n.1650+126T>C
NM_001382701.1:c.1365+126T>C	NP_001369630.1:n.1365+126T>C
NM_001382702.1:c.147+126T>C	NP_001369631.1:n.147+126T>C
NR_168483.1:n.517+126T>C