Canonical Allele Identifier: CA2269944962

Gene: ACE

Linked Data

• dbSNP Id: rs149571341
• gnomAD v4: 17-63486839-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486839G>T , CM000679.2:g.63486839G>T	GRCh38
NC_000017.10:g.61564200G>T , CM000679.1:g.61564200G>T	GRCh37
NC_000017.9:g.58917932G>T	NCBI36
NG_011648.1:g.14767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2217+124G>T MANE Select	ENSP00000290866.4:n.2217+124G>T
ENST00000290863.10:c.495+124G>T	ENSP00000290863.6:n.495+124G>T
ENST00000290866.9:c.2217+124G>T	ENSP00000290866.4:n.2217+124G>T
ENST00000413513.7:c.495+124G>T	ENSP00000392247.3:n.495+124G>T
ENST00000428043.5:c.2217+124G>T	ENSP00000397593.2:n.2217+124G>T
ENST00000577647.2:c.495+124G>T	ENSP00000464149.1:n.495+124G>T
ENST00000578839.5:c.*287+124G>T	ENSP00000462110.2:n.*287+124G>T
ENST00000579204.1:c.398+124G>T	ENSP00000464629.1:n.398+124G>T
ENST00000579314.5:c.495+124G>T	ENSP00000462599.1:n.495+124G>T
ENST00000579726.5:c.779+124G>T
ENST00000582005.5:c.*137+124G>T	ENSP00000462002.1:n.*137+124G>T
ENST00000584865.5:n.17G>T
NM_000789.3:c.2217+124G>T	NP_000780.1:n.2217+124G>T
NM_001178057.1:c.495+124G>T	NP_001171528.1:n.495+124G>T
NM_152830.2:c.495+124G>T	NP_690043.1:n.495+124G>T
XM_005257110.1:c.1668+124G>T	XP_005257167.1:n.1668+124G>T
XM_006721737.2:c.555+124G>T	XP_006721800.2:n.555+124G>T
XM_006721737.3:c.555+124G>T	XP_006721800.2:n.555+124G>T
NM_000789.4:c.2217+124G>T MANE Select	NP_000780.1:n.2217+124G>T
NM_001178057.2:c.495+124G>T	NP_001171528.1:n.495+124G>T
NM_152830.3:c.495+124G>T	NP_690043.1:n.495+124G>T
NM_001382700.1:c.1650+124G>T	NP_001369629.1:n.1650+124G>T
NM_001382701.1:c.1365+124G>T	NP_001369630.1:n.1365+124G>T
NM_001382702.1:c.147+124G>T	NP_001369631.1:n.147+124G>T
NR_168483.1:n.517+124G>T